SNP Links for Protein (Select 223718064) - SNP

Links from Protein

Items: 1 to 20 of 391

<< First< Prev

Page of 20

Next >Last >>

Select item 14858438721.

rs1485843872 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTTATCCTCCCTTATTTTATGTACGAAGCT [Show Flanks]
Chromosome:: 17:40349859 (GRCh38)
17:38506112 (GRCh37)
Canonical SPDI:: NC_000017.11:40349859:T:TTCTTATCCTCCCTTATTTTATGTACGAAGCT
Gene:: RARA (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.40349860_40349861insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NC_000017.10:g.38506112_38506113insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NG_027701.1:g.45690_45691insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_001024809.4:c.389_390insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_001024809.3:c.389_390insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_000964.4:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_000964.3:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_001145301.3:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_001145301.2:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257552.6:c.452_453insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257552.5:c.452_453insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257552.4:c.452_453insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257552.3:c.452_453insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257552.2:c.452_453insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257552.1:c.452_453insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257554.2:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257554.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_011525096.2:c.230_231insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_011525096.1:c.230_231insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_011525095.2:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_011525095.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257553.2:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_005257553.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_047436507.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_047436506.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, XM_047436508.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NM_001033603.1:c.404_405insTCTTATCCTCCCTTATTTTATGTACGAAGCT, NP_001019980.1:p.Thr131fs, NP_000955.1:p.Thr136fs, NP_001138773.1:p.Thr136fs, XP_005257609.1:p.Thr152fs, XP_005257611.1:p.Thr136fs, XP_011523398.1:p.Thr78fs, XP_011523397.1:p.Thr136fs, XP_005257610.1:p.Thr136fs, XP_047292463.1:p.Thr136fs, XP_047292462.1:p.Thr136fs, XP_047292464.1:p.Thr136fs

Select item 14845748022.

rs1484574802 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:40354446 (GRCh38)
17:38510698 (GRCh37)
Canonical SPDI:: NC_000017.11:40354445:CCCC:CCC
Gene:: RARA (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40354449del, NC_000017.10:g.38510701del, NG_027701.1:g.50279del, NM_001024809.4:c.940del, NM_001024809.3:c.940del, NM_000964.4:c.955del, NM_000964.3:c.955del, NM_001145301.3:c.955del, NM_001145301.2:c.955del, NM_001145302.3:c.664del, NM_001145302.2:c.664del, XM_005257552.6:c.1003del, XM_005257552.5:c.1003del, XM_005257552.4:c.1003del, XM_005257552.3:c.1003del, XM_005257552.2:c.1003del, XM_005257552.1:c.1003del, XM_005257554.2:c.955del, XM_005257554.1:c.955del, XM_011525096.2:c.781del, XM_011525096.1:c.781del, XM_011525095.2:c.955del, XM_011525095.1:c.955del, XM_005257553.2:c.955del, XM_005257553.1:c.955del, XM_047436507.1:c.955del, XM_047436506.1:c.955del, XM_047436508.1:c.955del, NM_001033603.1:c.955del, NP_001019980.1:p.Leu314fs, NP_000955.1:p.Leu319fs, NP_001138773.1:p.Leu319fs, NP_001138774.1:p.Leu222fs, XP_005257609.1:p.Leu335fs, XP_005257611.1:p.Leu319fs, XP_011523398.1:p.Leu261fs, XP_011523397.1:p.Leu319fs, XP_005257610.1:p.Leu319fs, XP_047292463.1:p.Leu319fs, XP_047292462.1:p.Leu319fs, XP_047292464.1:p.Leu319fs

Select item 14845452783.

rs1484545278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:40356166 (GRCh38)
17:38512418 (GRCh37)
Canonical SPDI:: NC_000017.11:40356165:C:A,NC_000017.11:40356165:C:G,NC_000017.11:40356165:C:T
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40356166C>A, NC_000017.11:g.40356166C>G, NC_000017.11:g.40356166C>T, NC_000017.10:g.38512418C>A, NC_000017.10:g.38512418C>G, NC_000017.10:g.38512418C>T, NG_027701.1:g.51996C>A, NG_027701.1:g.51996C>G, NG_027701.1:g.51996C>T, NM_001024809.4:c.1314C>A, NM_001024809.4:c.1314C>G, NM_001024809.4:c.1314C>T, NM_001024809.3:c.1314C>A, NM_001024809.3:c.1314C>G, NM_001024809.3:c.1314C>T, NM_000964.4:c.1329C>A, NM_000964.4:c.1329C>G, NM_000964.4:c.1329C>T, NM_000964.3:c.1329C>A, NM_000964.3:c.1329C>G, NM_000964.3:c.1329C>T, NM_001145301.3:c.1329C>A, NM_001145301.3:c.1329C>G, NM_001145301.3:c.1329C>T, NM_001145301.2:c.1329C>A, NM_001145301.2:c.1329C>G, NM_001145301.2:c.1329C>T, NM_001145302.3:c.1038C>A, NM_001145302.3:c.1038C>G, NM_001145302.3:c.1038C>T, NM_001145302.2:c.1038C>A, NM_001145302.2:c.1038C>G, NM_001145302.2:c.1038C>T, XM_005257552.6:c.1377C>A, XM_005257552.6:c.1377C>G, XM_005257552.6:c.1377C>T, XM_005257552.5:c.1377C>A, XM_005257552.5:c.1377C>G, XM_005257552.5:c.1377C>T, XM_005257552.4:c.1377C>A, XM_005257552.4:c.1377C>G, XM_005257552.4:c.1377C>T, XM_005257552.3:c.1377C>A, XM_005257552.3:c.1377C>G, XM_005257552.3:c.1377C>T, XM_005257552.2:c.1377C>A, XM_005257552.2:c.1377C>G, XM_005257552.2:c.1377C>T, XM_005257552.1:c.1377C>A, XM_005257552.1:c.1377C>G, XM_005257552.1:c.1377C>T, XM_005257554.2:c.1329C>A, XM_005257554.2:c.1329C>G, XM_005257554.2:c.1329C>T, XM_005257554.1:c.1329C>A, XM_005257554.1:c.1329C>G, XM_005257554.1:c.1329C>T, XM_011525096.2:c.1155C>A, XM_011525096.2:c.1155C>G, XM_011525096.2:c.1155C>T, XM_011525096.1:c.1155C>A, XM_011525096.1:c.1155C>G, XM_011525096.1:c.1155C>T, XM_011525095.2:c.1329C>A, XM_011525095.2:c.1329C>G, XM_011525095.2:c.1329C>T, XM_011525095.1:c.1329C>A, XM_011525095.1:c.1329C>G, XM_011525095.1:c.1329C>T, XM_005257553.2:c.1329C>A, XM_005257553.2:c.1329C>G, XM_005257553.2:c.1329C>T, XM_005257553.1:c.1329C>A, XM_005257553.1:c.1329C>G, XM_005257553.1:c.1329C>T, XM_047436507.1:c.1329C>A, XM_047436507.1:c.1329C>G, XM_047436507.1:c.1329C>T, XM_047436506.1:c.1329C>A, XM_047436506.1:c.1329C>G, XM_047436506.1:c.1329C>T, XM_047436508.1:c.1329C>A, XM_047436508.1:c.1329C>G, XM_047436508.1:c.1329C>T, NM_001033603.1:c.1329C>A, NM_001033603.1:c.1329C>G, NM_001033603.1:c.1329C>T, NP_001019980.1:p.Ser438Arg, NP_001019980.1:p.Ser438Arg, NP_000955.1:p.Ser443Arg, NP_000955.1:p.Ser443Arg, NP_001138773.1:p.Ser443Arg, NP_001138773.1:p.Ser443Arg, NP_001138774.1:p.Ser346Arg, NP_001138774.1:p.Ser346Arg, XP_005257609.1:p.Ser459Arg, XP_005257609.1:p.Ser459Arg, XP_005257611.1:p.Ser443Arg, XP_005257611.1:p.Ser443Arg, XP_011523398.1:p.Ser385Arg, XP_011523398.1:p.Ser385Arg, XP_011523397.1:p.Ser443Arg, XP_011523397.1:p.Ser443Arg, XP_005257610.1:p.Ser443Arg, XP_005257610.1:p.Ser443Arg, XP_047292463.1:p.Ser443Arg, XP_047292463.1:p.Ser443Arg, XP_047292462.1:p.Ser443Arg, XP_047292462.1:p.Ser443Arg, XP_047292464.1:p.Ser443Arg, XP_047292464.1:p.Ser443Arg

Select item 14831327464.

rs1483132746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40355372 (GRCh38)
17:38511624 (GRCh37)
Canonical SPDI:: NC_000017.11:40355371:C:T
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40355372C>T, NC_000017.10:g.38511624C>T, NG_027701.1:g.51202C>T, NM_001024809.4:c.1107C>T, NM_001024809.3:c.1107C>T, NM_000964.4:c.1122C>T, NM_000964.3:c.1122C>T, NM_001145301.3:c.1122C>T, NM_001145301.2:c.1122C>T, NM_001145302.3:c.831C>T, NM_001145302.2:c.831C>T, XM_005257552.6:c.1170C>T, XM_005257552.5:c.1170C>T, XM_005257552.4:c.1170C>T, XM_005257552.3:c.1170C>T, XM_005257552.2:c.1170C>T, XM_005257552.1:c.1170C>T, XM_005257554.2:c.1122C>T, XM_005257554.1:c.1122C>T, XM_011525096.2:c.948C>T, XM_011525096.1:c.948C>T, XM_011525095.2:c.1122C>T, XM_011525095.1:c.1122C>T, XM_005257553.2:c.1122C>T, XM_005257553.1:c.1122C>T, XM_047436507.1:c.1122C>T, XM_047436506.1:c.1122C>T, XM_047436508.1:c.1122C>T, NM_001033603.1:c.1122C>T

Select item 14815728135.

rs1481572813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:40351932 (GRCh38)
17:38508184 (GRCh37)
Canonical SPDI:: NC_000017.11:40351931:G:C
Gene:: RARA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.40351932G>C, NC_000017.10:g.38508184G>C, NG_027701.1:g.47762G>C, NM_001024809.4:c.477G>C, NM_001024809.3:c.477G>C, NM_000964.4:c.492G>C, NM_000964.3:c.492G>C, NM_001145301.3:c.492G>C, NM_001145301.2:c.492G>C, NM_001145302.3:c.201G>C, NM_001145302.2:c.201G>C, XM_005257552.6:c.540G>C, XM_005257552.5:c.540G>C, XM_005257552.4:c.540G>C, XM_005257552.3:c.540G>C, XM_005257552.2:c.540G>C, XM_005257552.1:c.540G>C, XM_005257554.2:c.492G>C, XM_005257554.1:c.492G>C, XM_011525096.2:c.318G>C, XM_011525096.1:c.318G>C, XM_011525095.2:c.492G>C, XM_011525095.1:c.492G>C, XM_005257553.2:c.492G>C, XM_005257553.1:c.492G>C, XM_047436507.1:c.492G>C, XM_047436506.1:c.492G>C, XM_047436508.1:c.492G>C, NM_001033603.1:c.492G>C, NP_001019980.1:p.Lys159Asn, NP_000955.1:p.Lys164Asn, NP_001138773.1:p.Lys164Asn, NP_001138774.1:p.Lys67Asn, XP_005257609.1:p.Lys180Asn, XP_005257611.1:p.Lys164Asn, XP_011523398.1:p.Lys106Asn, XP_011523397.1:p.Lys164Asn, XP_005257610.1:p.Lys164Asn, XP_047292463.1:p.Lys164Asn, XP_047292462.1:p.Lys164Asn, XP_047292464.1:p.Lys164Asn

Select item 14800736576.

rs1480073657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40351990 (GRCh38)
17:38508242 (GRCh37)
Canonical SPDI:: NC_000017.11:40351989:G:A
Gene:: RARA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40351990G>A, NC_000017.10:g.38508242G>A, NG_027701.1:g.47820G>A, NM_001024809.4:c.535G>A, NM_001024809.3:c.535G>A, NM_000964.4:c.550G>A, NM_000964.3:c.550G>A, NM_001145301.3:c.550G>A, NM_001145301.2:c.550G>A, NM_001145302.3:c.259G>A, NM_001145302.2:c.259G>A, XM_005257552.6:c.598G>A, XM_005257552.5:c.598G>A, XM_005257552.4:c.598G>A, XM_005257552.3:c.598G>A, XM_005257552.2:c.598G>A, XM_005257552.1:c.598G>A, XM_005257554.2:c.550G>A, XM_005257554.1:c.550G>A, XM_011525096.2:c.376G>A, XM_011525096.1:c.376G>A, XM_011525095.2:c.550G>A, XM_011525095.1:c.550G>A, XM_005257553.2:c.550G>A, XM_005257553.1:c.550G>A, XM_047436507.1:c.550G>A, XM_047436506.1:c.550G>A, XM_047436508.1:c.550G>A, NM_001033603.1:c.550G>A, NP_001019980.1:p.Val179Met, NP_000955.1:p.Val184Met, NP_001138773.1:p.Val184Met, NP_001138774.1:p.Val87Met, XP_005257609.1:p.Val200Met, XP_005257611.1:p.Val184Met, XP_011523398.1:p.Val126Met, XP_011523397.1:p.Val184Met, XP_005257610.1:p.Val184Met, XP_047292463.1:p.Val184Met, XP_047292462.1:p.Val184Met, XP_047292464.1:p.Val184Met

Select item 14784248987.

rs1478424898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40355396 (GRCh38)
17:38511648 (GRCh37)
Canonical SPDI:: NC_000017.11:40355395:T:C
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40355396T>C, NC_000017.10:g.38511648T>C, NG_027701.1:g.51226T>C, NM_001024809.4:c.1131T>C, NM_001024809.3:c.1131T>C, NM_000964.4:c.1146T>C, NM_000964.3:c.1146T>C, NM_001145301.3:c.1146T>C, NM_001145301.2:c.1146T>C, NM_001145302.3:c.855T>C, NM_001145302.2:c.855T>C, XM_005257552.6:c.1194T>C, XM_005257552.5:c.1194T>C, XM_005257552.4:c.1194T>C, XM_005257552.3:c.1194T>C, XM_005257552.2:c.1194T>C, XM_005257552.1:c.1194T>C, XM_005257554.2:c.1146T>C, XM_005257554.1:c.1146T>C, XM_011525096.2:c.972T>C, XM_011525096.1:c.972T>C, XM_011525095.2:c.1146T>C, XM_011525095.1:c.1146T>C, XM_005257553.2:c.1146T>C, XM_005257553.1:c.1146T>C, XM_047436507.1:c.1146T>C, XM_047436506.1:c.1146T>C, XM_047436508.1:c.1146T>C, NM_001033603.1:c.1146T>C

Select item 14781319728.

rs1478131972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40356187 (GRCh38)
17:38512439 (GRCh37)
Canonical SPDI:: NC_000017.11:40356186:C:T
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.40356187C>T, NC_000017.10:g.38512439C>T, NG_027701.1:g.52017C>T, NM_001024809.4:c.1335C>T, NM_001024809.3:c.1335C>T, NM_000964.4:c.1350C>T, NM_000964.3:c.1350C>T, NM_001145301.3:c.1350C>T, NM_001145301.2:c.1350C>T, NM_001145302.3:c.1059C>T, NM_001145302.2:c.1059C>T, XM_005257552.6:c.1398C>T, XM_005257552.5:c.1398C>T, XM_005257552.4:c.1398C>T, XM_005257552.3:c.1398C>T, XM_005257552.2:c.1398C>T, XM_005257552.1:c.1398C>T, XM_005257554.2:c.1350C>T, XM_005257554.1:c.1350C>T, XM_011525096.2:c.1176C>T, XM_011525096.1:c.1176C>T, XM_011525095.2:c.1350C>T, XM_011525095.1:c.1350C>T, XM_005257553.2:c.1350C>T, XM_005257553.1:c.1350C>T, XM_047436507.1:c.1350C>T, XM_047436506.1:c.1350C>T, XM_047436508.1:c.1350C>T, NM_001033603.1:c.1350C>T

Select item 14774433059.

rs1477443305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:40354457 (GRCh38)
17:38510709 (GRCh37)
Canonical SPDI:: NC_000017.11:40354456:G:A,NC_000017.11:40354456:G:C,NC_000017.11:40354456:G:T
Gene:: RARA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40354457G>A, NC_000017.11:g.40354457G>C, NC_000017.11:g.40354457G>T, NC_000017.10:g.38510709G>A, NC_000017.10:g.38510709G>C, NC_000017.10:g.38510709G>T, NG_027701.1:g.50287G>A, NG_027701.1:g.50287G>C, NG_027701.1:g.50287G>T, NM_001024809.4:c.948G>A, NM_001024809.4:c.948G>C, NM_001024809.4:c.948G>T, NM_001024809.3:c.948G>A, NM_001024809.3:c.948G>C, NM_001024809.3:c.948G>T, NM_000964.4:c.963G>A, NM_000964.4:c.963G>C, NM_000964.4:c.963G>T, NM_000964.3:c.963G>A, NM_000964.3:c.963G>C, NM_000964.3:c.963G>T, NM_001145301.3:c.963G>A, NM_001145301.3:c.963G>C, NM_001145301.3:c.963G>T, NM_001145301.2:c.963G>A, NM_001145301.2:c.963G>C, NM_001145301.2:c.963G>T, NM_001145302.3:c.672G>A, NM_001145302.3:c.672G>C, NM_001145302.3:c.672G>T, NM_001145302.2:c.672G>A, NM_001145302.2:c.672G>C, NM_001145302.2:c.672G>T, XM_005257552.6:c.1011G>A, XM_005257552.6:c.1011G>C, XM_005257552.6:c.1011G>T, XM_005257552.5:c.1011G>A, XM_005257552.5:c.1011G>C, XM_005257552.5:c.1011G>T, XM_005257552.4:c.1011G>A, XM_005257552.4:c.1011G>C, XM_005257552.4:c.1011G>T, XM_005257552.3:c.1011G>A, XM_005257552.3:c.1011G>C, XM_005257552.3:c.1011G>T, XM_005257552.2:c.1011G>A, XM_005257552.2:c.1011G>C, XM_005257552.2:c.1011G>T, XM_005257552.1:c.1011G>A, XM_005257552.1:c.1011G>C, XM_005257552.1:c.1011G>T, XM_005257554.2:c.963G>A, XM_005257554.2:c.963G>C, XM_005257554.2:c.963G>T, XM_005257554.1:c.963G>A, XM_005257554.1:c.963G>C, XM_005257554.1:c.963G>T, XM_011525096.2:c.789G>A, XM_011525096.2:c.789G>C, XM_011525096.2:c.789G>T, XM_011525096.1:c.789G>A, XM_011525096.1:c.789G>C, XM_011525096.1:c.789G>T, XM_011525095.2:c.963G>A, XM_011525095.2:c.963G>C, XM_011525095.2:c.963G>T, XM_011525095.1:c.963G>A, XM_011525095.1:c.963G>C, XM_011525095.1:c.963G>T, XM_005257553.2:c.963G>A, XM_005257553.2:c.963G>C, XM_005257553.2:c.963G>T, XM_005257553.1:c.963G>A, XM_005257553.1:c.963G>C, XM_005257553.1:c.963G>T, XM_047436507.1:c.963G>A, XM_047436507.1:c.963G>C, XM_047436507.1:c.963G>T, XM_047436506.1:c.963G>A, XM_047436506.1:c.963G>C, XM_047436506.1:c.963G>T, XM_047436508.1:c.963G>A, XM_047436508.1:c.963G>C, XM_047436508.1:c.963G>T, NM_001033603.1:c.963G>A, NM_001033603.1:c.963G>C, NM_001033603.1:c.963G>T, NP_001019980.1:p.Met316Ile, NP_001019980.1:p.Met316Ile, NP_001019980.1:p.Met316Ile, NP_000955.1:p.Met321Ile, NP_000955.1:p.Met321Ile, NP_000955.1:p.Met321Ile, NP_001138773.1:p.Met321Ile, NP_001138773.1:p.Met321Ile, NP_001138773.1:p.Met321Ile, NP_001138774.1:p.Met224Ile, NP_001138774.1:p.Met224Ile, NP_001138774.1:p.Met224Ile, XP_005257609.1:p.Met337Ile, XP_005257609.1:p.Met337Ile, XP_005257609.1:p.Met337Ile, XP_005257611.1:p.Met321Ile, XP_005257611.1:p.Met321Ile, XP_005257611.1:p.Met321Ile, XP_011523398.1:p.Met263Ile, XP_011523398.1:p.Met263Ile, XP_011523398.1:p.Met263Ile, XP_011523397.1:p.Met321Ile, XP_011523397.1:p.Met321Ile, XP_011523397.1:p.Met321Ile, XP_005257610.1:p.Met321Ile, XP_005257610.1:p.Met321Ile, XP_005257610.1:p.Met321Ile, XP_047292463.1:p.Met321Ile, XP_047292463.1:p.Met321Ile, XP_047292463.1:p.Met321Ile, XP_047292462.1:p.Met321Ile, XP_047292462.1:p.Met321Ile, XP_047292462.1:p.Met321Ile, XP_047292464.1:p.Met321Ile, XP_047292464.1:p.Met321Ile, XP_047292464.1:p.Met321Ile

Select item 147417335110.

rs1474173351 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:40356134 (GRCh38)
17:38512387 (GRCh37)
Canonical SPDI:: NC_000017.11:40356134::C
Gene:: RARA (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.40356134_40356135insC, NC_000017.10:g.38512386_38512387insC, NG_027701.1:g.51964_51965insC, NM_001024809.4:c.1282_1283insC, NM_001024809.3:c.1282_1283insC, NM_000964.4:c.1297_1298insC, NM_000964.3:c.1297_1298insC, NM_001145301.3:c.1297_1298insC, NM_001145301.2:c.1297_1298insC, NM_001145302.3:c.1006_1007insC, NM_001145302.2:c.1006_1007insC, XM_005257552.6:c.1345_1346insC, XM_005257552.5:c.1345_1346insC, XM_005257552.4:c.1345_1346insC, XM_005257552.3:c.1345_1346insC, XM_005257552.2:c.1345_1346insC, XM_005257552.1:c.1345_1346insC, XM_005257554.2:c.1297_1298insC, XM_005257554.1:c.1297_1298insC, XM_011525096.2:c.1123_1124insC, XM_011525096.1:c.1123_1124insC, XM_011525095.2:c.1297_1298insC, XM_011525095.1:c.1297_1298insC, XM_005257553.2:c.1297_1298insC, XM_005257553.1:c.1297_1298insC, XM_047436507.1:c.1297_1298insC, XM_047436506.1:c.1297_1298insC, XM_047436508.1:c.1297_1298insC, NM_001033603.1:c.1297_1298insC, NP_001019980.1:p.Asp428fs, NP_000955.1:p.Asp433fs, NP_001138773.1:p.Asp433fs, NP_001138774.1:p.Asp336fs, XP_005257609.1:p.Asp449fs, XP_005257611.1:p.Asp433fs, XP_011523398.1:p.Asp375fs, XP_011523397.1:p.Asp433fs, XP_005257610.1:p.Asp433fs, XP_047292463.1:p.Asp433fs, XP_047292462.1:p.Asp433fs, XP_047292464.1:p.Asp433fs

Select item 147363080411.

rs1473630804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:40356103 (GRCh38)
17:38512355 (GRCh37)
Canonical SPDI:: NC_000017.11:40356102:T:A,NC_000017.11:40356102:T:G
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.40356103T>A, NC_000017.11:g.40356103T>G, NC_000017.10:g.38512355T>A, NC_000017.10:g.38512355T>G, NG_027701.1:g.51933T>A, NG_027701.1:g.51933T>G, NM_001024809.4:c.1251T>A, NM_001024809.4:c.1251T>G, NM_001024809.3:c.1251T>A, NM_001024809.3:c.1251T>G, NM_000964.4:c.1266T>A, NM_000964.4:c.1266T>G, NM_000964.3:c.1266T>A, NM_000964.3:c.1266T>G, NM_001145301.3:c.1266T>A, NM_001145301.3:c.1266T>G, NM_001145301.2:c.1266T>A, NM_001145301.2:c.1266T>G, NM_001145302.3:c.975T>A, NM_001145302.3:c.975T>G, NM_001145302.2:c.975T>A, NM_001145302.2:c.975T>G, XM_005257552.6:c.1314T>A, XM_005257552.6:c.1314T>G, XM_005257552.5:c.1314T>A, XM_005257552.5:c.1314T>G, XM_005257552.4:c.1314T>A, XM_005257552.4:c.1314T>G, XM_005257552.3:c.1314T>A, XM_005257552.3:c.1314T>G, XM_005257552.2:c.1314T>A, XM_005257552.2:c.1314T>G, XM_005257552.1:c.1314T>A, XM_005257552.1:c.1314T>G, XM_005257554.2:c.1266T>A, XM_005257554.2:c.1266T>G, XM_005257554.1:c.1266T>A, XM_005257554.1:c.1266T>G, XM_011525096.2:c.1092T>A, XM_011525096.2:c.1092T>G, XM_011525096.1:c.1092T>A, XM_011525096.1:c.1092T>G, XM_011525095.2:c.1266T>A, XM_011525095.2:c.1266T>G, XM_011525095.1:c.1266T>A, XM_011525095.1:c.1266T>G, XM_005257553.2:c.1266T>A, XM_005257553.2:c.1266T>G, XM_005257553.1:c.1266T>A, XM_005257553.1:c.1266T>G, XM_047436507.1:c.1266T>A, XM_047436507.1:c.1266T>G, XM_047436506.1:c.1266T>A, XM_047436506.1:c.1266T>G, XM_047436508.1:c.1266T>A, XM_047436508.1:c.1266T>G, NM_001033603.1:c.1266T>A, NM_001033603.1:c.1266T>G

Select item 147336709612.

rs1473367096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40355393 (GRCh38)
17:38511645 (GRCh37)
Canonical SPDI:: NC_000017.11:40355392:T:C
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40355393T>C, NC_000017.10:g.38511645T>C, NG_027701.1:g.51223T>C, NM_001024809.4:c.1128T>C, NM_001024809.3:c.1128T>C, NM_000964.4:c.1143T>C, NM_000964.3:c.1143T>C, NM_001145301.3:c.1143T>C, NM_001145301.2:c.1143T>C, NM_001145302.3:c.852T>C, NM_001145302.2:c.852T>C, XM_005257552.6:c.1191T>C, XM_005257552.5:c.1191T>C, XM_005257552.4:c.1191T>C, XM_005257552.3:c.1191T>C, XM_005257552.2:c.1191T>C, XM_005257552.1:c.1191T>C, XM_005257554.2:c.1143T>C, XM_005257554.1:c.1143T>C, XM_011525096.2:c.969T>C, XM_011525096.1:c.969T>C, XM_011525095.2:c.1143T>C, XM_011525095.1:c.1143T>C, XM_005257553.2:c.1143T>C, XM_005257553.1:c.1143T>C, XM_047436507.1:c.1143T>C, XM_047436506.1:c.1143T>C, XM_047436508.1:c.1143T>C, NM_001033603.1:c.1143T>C

Select item 147166398213.

rs1471663982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40354348 (GRCh38)
17:38510600 (GRCh37)
Canonical SPDI:: NC_000017.11:40354347:C:G,NC_000017.11:40354347:C:T
Gene:: RARA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40354348C>G, NC_000017.11:g.40354348C>T, NC_000017.10:g.38510600C>G, NC_000017.10:g.38510600C>T, NG_027701.1:g.50178C>G, NG_027701.1:g.50178C>T, NM_001024809.4:c.839C>G, NM_001024809.4:c.839C>T, NM_001024809.3:c.839C>G, NM_001024809.3:c.839C>T, NM_000964.4:c.854C>G, NM_000964.4:c.854C>T, NM_000964.3:c.854C>G, NM_000964.3:c.854C>T, NM_001145301.3:c.854C>G, NM_001145301.3:c.854C>T, NM_001145301.2:c.854C>G, NM_001145301.2:c.854C>T, NM_001145302.3:c.563C>G, NM_001145302.3:c.563C>T, NM_001145302.2:c.563C>G, NM_001145302.2:c.563C>T, XM_005257552.6:c.902C>G, XM_005257552.6:c.902C>T, XM_005257552.5:c.902C>G, XM_005257552.5:c.902C>T, XM_005257552.4:c.902C>G, XM_005257552.4:c.902C>T, XM_005257552.3:c.902C>G, XM_005257552.3:c.902C>T, XM_005257552.2:c.902C>G, XM_005257552.2:c.902C>T, XM_005257552.1:c.902C>G, XM_005257552.1:c.902C>T, XM_005257554.2:c.854C>G, XM_005257554.2:c.854C>T, XM_005257554.1:c.854C>G, XM_005257554.1:c.854C>T, XM_011525096.2:c.680C>G, XM_011525096.2:c.680C>T, XM_011525096.1:c.680C>G, XM_011525096.1:c.680C>T, XM_011525095.2:c.854C>G, XM_011525095.2:c.854C>T, XM_011525095.1:c.854C>G, XM_011525095.1:c.854C>T, XM_005257553.2:c.854C>G, XM_005257553.2:c.854C>T, XM_005257553.1:c.854C>G, XM_005257553.1:c.854C>T, XM_047436507.1:c.854C>G, XM_047436507.1:c.854C>T, XM_047436506.1:c.854C>G, XM_047436506.1:c.854C>T, XM_047436508.1:c.854C>G, XM_047436508.1:c.854C>T, NM_001033603.1:c.854C>G, NM_001033603.1:c.854C>T, NP_001019980.1:p.Thr280Ser, NP_001019980.1:p.Thr280Ile, NP_000955.1:p.Thr285Ser, NP_000955.1:p.Thr285Ile, NP_001138773.1:p.Thr285Ser, NP_001138773.1:p.Thr285Ile, NP_001138774.1:p.Thr188Ser, NP_001138774.1:p.Thr188Ile, XP_005257609.1:p.Thr301Ser, XP_005257609.1:p.Thr301Ile, XP_005257611.1:p.Thr285Ser, XP_005257611.1:p.Thr285Ile, XP_011523398.1:p.Thr227Ser, XP_011523398.1:p.Thr227Ile, XP_011523397.1:p.Thr285Ser, XP_011523397.1:p.Thr285Ile, XP_005257610.1:p.Thr285Ser, XP_005257610.1:p.Thr285Ile, XP_047292463.1:p.Thr285Ser, XP_047292463.1:p.Thr285Ile, XP_047292462.1:p.Thr285Ser, XP_047292462.1:p.Thr285Ile, XP_047292464.1:p.Thr285Ser, XP_047292464.1:p.Thr285Ile

Select item 146719784914.

rs1467197849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:40356076 (GRCh38)
17:38512328 (GRCh37)
Canonical SPDI:: NC_000017.11:40356075:G:A,NC_000017.11:40356075:G:T
Gene:: RARA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.40356076G>A, NC_000017.11:g.40356076G>T, NC_000017.10:g.38512328G>A, NC_000017.10:g.38512328G>T, NG_027701.1:g.51906G>A, NG_027701.1:g.51906G>T, NM_001024809.4:c.1224G>A, NM_001024809.4:c.1224G>T, NM_001024809.3:c.1224G>A, NM_001024809.3:c.1224G>T, NM_000964.4:c.1239G>A, NM_000964.4:c.1239G>T, NM_000964.3:c.1239G>A, NM_000964.3:c.1239G>T, NM_001145301.3:c.1239G>A, NM_001145301.3:c.1239G>T, NM_001145301.2:c.1239G>A, NM_001145301.2:c.1239G>T, NM_001145302.3:c.948G>A, NM_001145302.3:c.948G>T, NM_001145302.2:c.948G>A, NM_001145302.2:c.948G>T, XM_005257552.6:c.1287G>A, XM_005257552.6:c.1287G>T, XM_005257552.5:c.1287G>A, XM_005257552.5:c.1287G>T, XM_005257552.4:c.1287G>A, XM_005257552.4:c.1287G>T, XM_005257552.3:c.1287G>A, XM_005257552.3:c.1287G>T, XM_005257552.2:c.1287G>A, XM_005257552.2:c.1287G>T, XM_005257552.1:c.1287G>A, XM_005257552.1:c.1287G>T, XM_005257554.2:c.1239G>A, XM_005257554.2:c.1239G>T, XM_005257554.1:c.1239G>A, XM_005257554.1:c.1239G>T, XM_011525096.2:c.1065G>A, XM_011525096.2:c.1065G>T, XM_011525096.1:c.1065G>A, XM_011525096.1:c.1065G>T, XM_011525095.2:c.1239G>A, XM_011525095.2:c.1239G>T, XM_011525095.1:c.1239G>A, XM_011525095.1:c.1239G>T, XM_005257553.2:c.1239G>A, XM_005257553.2:c.1239G>T, XM_005257553.1:c.1239G>A, XM_005257553.1:c.1239G>T, XM_047436507.1:c.1239G>A, XM_047436507.1:c.1239G>T, XM_047436506.1:c.1239G>A, XM_047436506.1:c.1239G>T, XM_047436508.1:c.1239G>A, XM_047436508.1:c.1239G>T, NM_001033603.1:c.1239G>A, NM_001033603.1:c.1239G>T, NP_001019980.1:p.Met408Ile, NP_001019980.1:p.Met408Ile, NP_000955.1:p.Met413Ile, NP_000955.1:p.Met413Ile, NP_001138773.1:p.Met413Ile, NP_001138773.1:p.Met413Ile, NP_001138774.1:p.Met316Ile, NP_001138774.1:p.Met316Ile, XP_005257609.1:p.Met429Ile, XP_005257609.1:p.Met429Ile, XP_005257611.1:p.Met413Ile, XP_005257611.1:p.Met413Ile, XP_011523398.1:p.Met355Ile, XP_011523398.1:p.Met355Ile, XP_011523397.1:p.Met413Ile, XP_011523397.1:p.Met413Ile, XP_005257610.1:p.Met413Ile, XP_005257610.1:p.Met413Ile, XP_047292463.1:p.Met413Ile, XP_047292463.1:p.Met413Ile, XP_047292462.1:p.Met413Ile, XP_047292462.1:p.Met413Ile, XP_047292464.1:p.Met413Ile, XP_047292464.1:p.Met413Ile

Select item 145872274615.

rs1458722746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:40355299 (GRCh38)
17:38511551 (GRCh37)
Canonical SPDI:: NC_000017.11:40355298:T:A,NC_000017.11:40355298:T:G
Gene:: RARA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40355299T>A, NC_000017.11:g.40355299T>G, NC_000017.10:g.38511551T>A, NC_000017.10:g.38511551T>G, NG_027701.1:g.51129T>A, NG_027701.1:g.51129T>G, NM_001024809.4:c.1034T>A, NM_001024809.4:c.1034T>G, NM_001024809.3:c.1034T>A, NM_001024809.3:c.1034T>G, NM_000964.4:c.1049T>A, NM_000964.4:c.1049T>G, NM_000964.3:c.1049T>A, NM_000964.3:c.1049T>G, NM_001145301.3:c.1049T>A, NM_001145301.3:c.1049T>G, NM_001145301.2:c.1049T>A, NM_001145301.2:c.1049T>G, NM_001145302.3:c.758T>A, NM_001145302.3:c.758T>G, NM_001145302.2:c.758T>A, NM_001145302.2:c.758T>G, XM_005257552.6:c.1097T>A, XM_005257552.6:c.1097T>G, XM_005257552.5:c.1097T>A, XM_005257552.5:c.1097T>G, XM_005257552.4:c.1097T>A, XM_005257552.4:c.1097T>G, XM_005257552.3:c.1097T>A, XM_005257552.3:c.1097T>G, XM_005257552.2:c.1097T>A, XM_005257552.2:c.1097T>G, XM_005257552.1:c.1097T>A, XM_005257552.1:c.1097T>G, XM_005257554.2:c.1049T>A, XM_005257554.2:c.1049T>G, XM_005257554.1:c.1049T>A, XM_005257554.1:c.1049T>G, XM_011525096.2:c.875T>A, XM_011525096.2:c.875T>G, XM_011525096.1:c.875T>A, XM_011525096.1:c.875T>G, XM_011525095.2:c.1049T>A, XM_011525095.2:c.1049T>G, XM_011525095.1:c.1049T>A, XM_011525095.1:c.1049T>G, XM_005257553.2:c.1049T>A, XM_005257553.2:c.1049T>G, XM_005257553.1:c.1049T>A, XM_005257553.1:c.1049T>G, XM_047436507.1:c.1049T>A, XM_047436507.1:c.1049T>G, XM_047436506.1:c.1049T>A, XM_047436506.1:c.1049T>G, XM_047436508.1:c.1049T>A, XM_047436508.1:c.1049T>G, NM_001033603.1:c.1049T>A, NM_001033603.1:c.1049T>G, NP_001019980.1:p.Met345Lys, NP_001019980.1:p.Met345Arg, NP_000955.1:p.Met350Lys, NP_000955.1:p.Met350Arg, NP_001138773.1:p.Met350Lys, NP_001138773.1:p.Met350Arg, NP_001138774.1:p.Met253Lys, NP_001138774.1:p.Met253Arg, XP_005257609.1:p.Met366Lys, XP_005257609.1:p.Met366Arg, XP_005257611.1:p.Met350Lys, XP_005257611.1:p.Met350Arg, XP_011523398.1:p.Met292Lys, XP_011523398.1:p.Met292Arg, XP_011523397.1:p.Met350Lys, XP_011523397.1:p.Met350Arg, XP_005257610.1:p.Met350Lys, XP_005257610.1:p.Met350Arg, XP_047292463.1:p.Met350Lys, XP_047292463.1:p.Met350Arg, XP_047292462.1:p.Met350Lys, XP_047292462.1:p.Met350Arg, XP_047292464.1:p.Met350Lys, XP_047292464.1:p.Met350Arg

Select item 145738227116.

rs1457382271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:40354309 (GRCh38)
17:38510561 (GRCh37)
Canonical SPDI:: NC_000017.11:40354308:G:A,NC_000017.11:40354308:G:C,NC_000017.11:40354308:G:T
Gene:: RARA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.40354309G>A, NC_000017.11:g.40354309G>C, NC_000017.11:g.40354309G>T, NC_000017.10:g.38510561G>A, NC_000017.10:g.38510561G>C, NC_000017.10:g.38510561G>T, NG_027701.1:g.50139G>A, NG_027701.1:g.50139G>C, NG_027701.1:g.50139G>T, NM_001024809.4:c.800G>A, NM_001024809.4:c.800G>C, NM_001024809.4:c.800G>T, NM_001024809.3:c.800G>A, NM_001024809.3:c.800G>C, NM_001024809.3:c.800G>T, NM_000964.4:c.815G>A, NM_000964.4:c.815G>C, NM_000964.4:c.815G>T, NM_000964.3:c.815G>A, NM_000964.3:c.815G>C, NM_000964.3:c.815G>T, NM_001145301.3:c.815G>A, NM_001145301.3:c.815G>C, NM_001145301.3:c.815G>T, NM_001145301.2:c.815G>A, NM_001145301.2:c.815G>C, NM_001145301.2:c.815G>T, NM_001145302.3:c.524G>A, NM_001145302.3:c.524G>C, NM_001145302.3:c.524G>T, NM_001145302.2:c.524G>A, NM_001145302.2:c.524G>C, NM_001145302.2:c.524G>T, XM_005257552.6:c.863G>A, XM_005257552.6:c.863G>C, XM_005257552.6:c.863G>T, XM_005257552.5:c.863G>A, XM_005257552.5:c.863G>C, XM_005257552.5:c.863G>T, XM_005257552.4:c.863G>A, XM_005257552.4:c.863G>C, XM_005257552.4:c.863G>T, XM_005257552.3:c.863G>A, XM_005257552.3:c.863G>C, XM_005257552.3:c.863G>T, XM_005257552.2:c.863G>A, XM_005257552.2:c.863G>C, XM_005257552.2:c.863G>T, XM_005257552.1:c.863G>A, XM_005257552.1:c.863G>C, XM_005257552.1:c.863G>T, XM_005257554.2:c.815G>A, XM_005257554.2:c.815G>C, XM_005257554.2:c.815G>T, XM_005257554.1:c.815G>A, XM_005257554.1:c.815G>C, XM_005257554.1:c.815G>T, XM_011525096.2:c.641G>A, XM_011525096.2:c.641G>C, XM_011525096.2:c.641G>T, XM_011525096.1:c.641G>A, XM_011525096.1:c.641G>C, XM_011525096.1:c.641G>T, XM_011525095.2:c.815G>A, XM_011525095.2:c.815G>C, XM_011525095.2:c.815G>T, XM_011525095.1:c.815G>A, XM_011525095.1:c.815G>C, XM_011525095.1:c.815G>T, XM_005257553.2:c.815G>A, XM_005257553.2:c.815G>C, XM_005257553.2:c.815G>T, XM_005257553.1:c.815G>A, XM_005257553.1:c.815G>C, XM_005257553.1:c.815G>T, XM_047436507.1:c.815G>A, XM_047436507.1:c.815G>C, XM_047436507.1:c.815G>T, XM_047436506.1:c.815G>A, XM_047436506.1:c.815G>C, XM_047436506.1:c.815G>T, XM_047436508.1:c.815G>A, XM_047436508.1:c.815G>C, XM_047436508.1:c.815G>T, NM_001033603.1:c.815G>A, NM_001033603.1:c.815G>C, NM_001033603.1:c.815G>T, NP_001019980.1:p.Arg267Gln, NP_001019980.1:p.Arg267Pro, NP_001019980.1:p.Arg267Leu, NP_000955.1:p.Arg272Gln, NP_000955.1:p.Arg272Pro, NP_000955.1:p.Arg272Leu, NP_001138773.1:p.Arg272Gln, NP_001138773.1:p.Arg272Pro, NP_001138773.1:p.Arg272Leu, NP_001138774.1:p.Arg175Gln, NP_001138774.1:p.Arg175Pro, NP_001138774.1:p.Arg175Leu, XP_005257609.1:p.Arg288Gln, XP_005257609.1:p.Arg288Pro, XP_005257609.1:p.Arg288Leu, XP_005257611.1:p.Arg272Gln, XP_005257611.1:p.Arg272Pro, XP_005257611.1:p.Arg272Leu, XP_011523398.1:p.Arg214Gln, XP_011523398.1:p.Arg214Pro, XP_011523398.1:p.Arg214Leu, XP_011523397.1:p.Arg272Gln, XP_011523397.1:p.Arg272Pro, XP_011523397.1:p.Arg272Leu, XP_005257610.1:p.Arg272Gln, XP_005257610.1:p.Arg272Pro, XP_005257610.1:p.Arg272Leu, XP_047292463.1:p.Arg272Gln, XP_047292463.1:p.Arg272Pro, XP_047292463.1:p.Arg272Leu, XP_047292462.1:p.Arg272Gln, XP_047292462.1:p.Arg272Pro, XP_047292462.1:p.Arg272Leu, XP_047292464.1:p.Arg272Gln, XP_047292464.1:p.Arg272Pro, XP_047292464.1:p.Arg272Leu

Select item 145608150817.

rs1456081508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40352005 (GRCh38)
17:38508257 (GRCh37)
Canonical SPDI:: NC_000017.11:40352004:G:A
Gene:: RARA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40352005G>A, NC_000017.10:g.38508257G>A, NG_027701.1:g.47835G>A, NM_001024809.4:c.550G>A, NM_001024809.3:c.550G>A, NM_000964.4:c.565G>A, NM_000964.3:c.565G>A, NM_001145301.3:c.565G>A, NM_001145301.2:c.565G>A, NM_001145302.3:c.274G>A, NM_001145302.2:c.274G>A, XM_005257552.6:c.613G>A, XM_005257552.5:c.613G>A, XM_005257552.4:c.613G>A, XM_005257552.3:c.613G>A, XM_005257552.2:c.613G>A, XM_005257552.1:c.613G>A, XM_005257554.2:c.565G>A, XM_005257554.1:c.565G>A, XM_011525096.2:c.391G>A, XM_011525096.1:c.391G>A, XM_011525095.2:c.565G>A, XM_011525095.1:c.565G>A, XM_005257553.2:c.565G>A, XM_005257553.1:c.565G>A, XM_047436507.1:c.565G>A, XM_047436506.1:c.565G>A, XM_047436508.1:c.565G>A, NM_001033603.1:c.565G>A, NP_001019980.1:p.Glu184Lys, NP_000955.1:p.Glu189Lys, NP_001138773.1:p.Glu189Lys, NP_001138774.1:p.Glu92Lys, XP_005257609.1:p.Glu205Lys, XP_005257611.1:p.Glu189Lys, XP_011523398.1:p.Glu131Lys, XP_011523397.1:p.Glu189Lys, XP_005257610.1:p.Glu189Lys, XP_047292463.1:p.Glu189Lys, XP_047292462.1:p.Glu189Lys, XP_047292464.1:p.Glu189Lys

Select item 145437543918.

rs1454375439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:40349871 (GRCh38)
17:38506123 (GRCh37)
Canonical SPDI:: NC_000017.11:40349870:C:A,NC_000017.11:40349870:C:G,NC_000017.11:40349870:C:T
Gene:: RARA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.40349871C>A, NC_000017.11:g.40349871C>G, NC_000017.11:g.40349871C>T, NC_000017.10:g.38506123C>A, NC_000017.10:g.38506123C>G, NC_000017.10:g.38506123C>T, NG_027701.1:g.45701C>A, NG_027701.1:g.45701C>G, NG_027701.1:g.45701C>T, NM_001024809.4:c.400C>A, NM_001024809.4:c.400C>G, NM_001024809.4:c.400C>T, NM_001024809.3:c.400C>A, NM_001024809.3:c.400C>G, NM_001024809.3:c.400C>T, NM_000964.4:c.415C>A, NM_000964.4:c.415C>G, NM_000964.4:c.415C>T, NM_000964.3:c.415C>A, NM_000964.3:c.415C>G, NM_000964.3:c.415C>T, NM_001145301.3:c.415C>A, NM_001145301.3:c.415C>G, NM_001145301.3:c.415C>T, NM_001145301.2:c.415C>A, NM_001145301.2:c.415C>G, NM_001145301.2:c.415C>T, XM_005257552.6:c.463C>A, XM_005257552.6:c.463C>G, XM_005257552.6:c.463C>T, XM_005257552.5:c.463C>A, XM_005257552.5:c.463C>G, XM_005257552.5:c.463C>T, XM_005257552.4:c.463C>A, XM_005257552.4:c.463C>G, XM_005257552.4:c.463C>T, XM_005257552.3:c.463C>A, XM_005257552.3:c.463C>G, XM_005257552.3:c.463C>T, XM_005257552.2:c.463C>A, XM_005257552.2:c.463C>G, XM_005257552.2:c.463C>T, XM_005257552.1:c.463C>A, XM_005257552.1:c.463C>G, XM_005257552.1:c.463C>T, XM_005257554.2:c.415C>A, XM_005257554.2:c.415C>G, XM_005257554.2:c.415C>T, XM_005257554.1:c.415C>A, XM_005257554.1:c.415C>G, XM_005257554.1:c.415C>T, XM_011525096.2:c.241C>A, XM_011525096.2:c.241C>G, XM_011525096.2:c.241C>T, XM_011525096.1:c.241C>A, XM_011525096.1:c.241C>G, XM_011525096.1:c.241C>T, XM_011525095.2:c.415C>A, XM_011525095.2:c.415C>G, XM_011525095.2:c.415C>T, XM_011525095.1:c.415C>A, XM_011525095.1:c.415C>G, XM_011525095.1:c.415C>T, XM_005257553.2:c.415C>A, XM_005257553.2:c.415C>G, XM_005257553.2:c.415C>T, XM_005257553.1:c.415C>A, XM_005257553.1:c.415C>G, XM_005257553.1:c.415C>T, XM_047436507.1:c.415C>A, XM_047436507.1:c.415C>G, XM_047436507.1:c.415C>T, XM_047436506.1:c.415C>A, XM_047436506.1:c.415C>G, XM_047436506.1:c.415C>T, XM_047436508.1:c.415C>A, XM_047436508.1:c.415C>G, XM_047436508.1:c.415C>T, NM_001033603.1:c.415C>A, NM_001033603.1:c.415C>G, NM_001033603.1:c.415C>T, NP_001019980.1:p.Arg134Ser, NP_001019980.1:p.Arg134Gly, NP_001019980.1:p.Arg134Cys, NP_000955.1:p.Arg139Ser, NP_000955.1:p.Arg139Gly, NP_000955.1:p.Arg139Cys, NP_001138773.1:p.Arg139Ser, NP_001138773.1:p.Arg139Gly, NP_001138773.1:p.Arg139Cys, XP_005257609.1:p.Arg155Ser, XP_005257609.1:p.Arg155Gly, XP_005257609.1:p.Arg155Cys, XP_005257611.1:p.Arg139Ser, XP_005257611.1:p.Arg139Gly, XP_005257611.1:p.Arg139Cys, XP_011523398.1:p.Arg81Ser, XP_011523398.1:p.Arg81Gly, XP_011523398.1:p.Arg81Cys, XP_011523397.1:p.Arg139Ser, XP_011523397.1:p.Arg139Gly, XP_011523397.1:p.Arg139Cys, XP_005257610.1:p.Arg139Ser, XP_005257610.1:p.Arg139Gly, XP_005257610.1:p.Arg139Cys, XP_047292463.1:p.Arg139Ser, XP_047292463.1:p.Arg139Gly, XP_047292463.1:p.Arg139Cys, XP_047292462.1:p.Arg139Ser, XP_047292462.1:p.Arg139Gly, XP_047292462.1:p.Arg139Cys, XP_047292464.1:p.Arg139Ser, XP_047292464.1:p.Arg139Gly, XP_047292464.1:p.Arg139Cys

Select item 145043531819.

rs1450435318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40349852 (GRCh38)
17:38506104 (GRCh37)
Canonical SPDI:: NC_000017.11:40349851:C:T
Gene:: RARA (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40349852C>T, NC_000017.10:g.38506104C>T, NG_027701.1:g.45682C>T, NM_001024809.4:c.381C>T, NM_001024809.3:c.381C>T, NM_000964.4:c.396C>T, NM_000964.3:c.396C>T, NM_001145301.3:c.396C>T, NM_001145301.2:c.396C>T, XM_005257552.6:c.444C>T, XM_005257552.5:c.444C>T, XM_005257552.4:c.444C>T, XM_005257552.3:c.444C>T, XM_005257552.2:c.444C>T, XM_005257552.1:c.444C>T, XM_005257554.2:c.396C>T, XM_005257554.1:c.396C>T, XM_011525096.2:c.222C>T, XM_011525096.1:c.222C>T, XM_011525095.2:c.396C>T, XM_011525095.1:c.396C>T, XM_005257553.2:c.396C>T, XM_005257553.1:c.396C>T, XM_047436507.1:c.396C>T, XM_047436506.1:c.396C>T, XM_047436508.1:c.396C>T, NM_001033603.1:c.396C>T

Select item 144912719920.

rs1449127199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:40356119 (GRCh38)
17:38512371 (GRCh37)
Canonical SPDI:: NC_000017.11:40356118:G:A,NC_000017.11:40356118:G:T
Gene:: RARA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.40356119G>A, NC_000017.11:g.40356119G>T, NC_000017.10:g.38512371G>A, NC_000017.10:g.38512371G>T, NG_027701.1:g.51949G>A, NG_027701.1:g.51949G>T, NM_001024809.4:c.1267G>A, NM_001024809.4:c.1267G>T, NM_001024809.3:c.1267G>A, NM_001024809.3:c.1267G>T, NM_000964.4:c.1282G>A, NM_000964.4:c.1282G>T, NM_000964.3:c.1282G>A, NM_000964.3:c.1282G>T, NM_001145301.3:c.1282G>A, NM_001145301.3:c.1282G>T, NM_001145301.2:c.1282G>A, NM_001145301.2:c.1282G>T, NM_001145302.3:c.991G>A, NM_001145302.3:c.991G>T, NM_001145302.2:c.991G>A, NM_001145302.2:c.991G>T, XM_005257552.6:c.1330G>A, XM_005257552.6:c.1330G>T, XM_005257552.5:c.1330G>A, XM_005257552.5:c.1330G>T, XM_005257552.4:c.1330G>A, XM_005257552.4:c.1330G>T, XM_005257552.3:c.1330G>A, XM_005257552.3:c.1330G>T, XM_005257552.2:c.1330G>A, XM_005257552.2:c.1330G>T, XM_005257552.1:c.1330G>A, XM_005257552.1:c.1330G>T, XM_005257554.2:c.1282G>A, XM_005257554.2:c.1282G>T, XM_005257554.1:c.1282G>A, XM_005257554.1:c.1282G>T, XM_011525096.2:c.1108G>A, XM_011525096.2:c.1108G>T, XM_011525096.1:c.1108G>A, XM_011525096.1:c.1108G>T, XM_011525095.2:c.1282G>A, XM_011525095.2:c.1282G>T, XM_011525095.1:c.1282G>A, XM_011525095.1:c.1282G>T, XM_005257553.2:c.1282G>A, XM_005257553.2:c.1282G>T, XM_005257553.1:c.1282G>A, XM_005257553.1:c.1282G>T, XM_047436507.1:c.1282G>A, XM_047436507.1:c.1282G>T, XM_047436506.1:c.1282G>A, XM_047436506.1:c.1282G>T, XM_047436508.1:c.1282G>A, XM_047436508.1:c.1282G>T, NM_001033603.1:c.1282G>A, NM_001033603.1:c.1282G>T, NP_001019980.1:p.Gly423Arg, NP_001019980.1:p.Gly423Trp, NP_000955.1:p.Gly428Arg, NP_000955.1:p.Gly428Trp, NP_001138773.1:p.Gly428Arg, NP_001138773.1:p.Gly428Trp, NP_001138774.1:p.Gly331Arg, NP_001138774.1:p.Gly331Trp, XP_005257609.1:p.Gly444Arg, XP_005257609.1:p.Gly444Trp, XP_005257611.1:p.Gly428Arg, XP_005257611.1:p.Gly428Trp, XP_011523398.1:p.Gly370Arg, XP_011523398.1:p.Gly370Trp, XP_011523397.1:p.Gly428Arg, XP_011523397.1:p.Gly428Trp, XP_005257610.1:p.Gly428Arg, XP_005257610.1:p.Gly428Trp, XP_047292463.1:p.Gly428Arg, XP_047292463.1:p.Gly428Trp, XP_047292462.1:p.Gly428Arg, XP_047292462.1:p.Gly428Trp, XP_047292464.1:p.Gly428Arg, XP_047292464.1:p.Gly428Trp

<< First< Prev

Page of 20

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 391

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity