SNP Links for Protein (Select 768038858) - SNP

Links from Protein

Items: 1 to 20 of 2253

<< First< Prev

Page of 113

Next >Last >>

Select item 14908206771.

rs1490820677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:136397891 (GRCh38)
X:135480050 (GRCh37)
Canonical SPDI:: NC_000023.11:136397890:G:C
Gene:: ADGRG4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136397891G>C, NC_000023.10:g.135480050G>C, NG_021219.1:g.101929G>C, NM_153834.4:c.8195G>C, NM_153834.3:c.8195G>C, XM_011531269.3:c.8195G>C, XM_011531269.2:c.8195G>C, XM_011531269.1:c.8195G>C, XM_011531271.3:c.8006G>C, XM_011531271.2:c.8006G>C, XM_011531271.1:c.8006G>C, XM_047441830.1:c.8060G>C, NP_722576.3:p.Arg2732Thr, XP_011529571.1:p.Arg2732Thr, XP_011529573.1:p.Arg2669Thr, XP_047297786.1:p.Arg2687Thr

Select item 14907881202.

rs1490788120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:136405932 (GRCh38)
X:135488091 (GRCh37)
Canonical SPDI:: NC_000023.11:136405931:C:A,NC_000023.11:136405931:C:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.136405932C>A, NC_000023.11:g.136405932C>G, NC_000023.10:g.135488091C>A, NC_000023.10:g.135488091C>G, NG_021219.1:g.109970C>A, NG_021219.1:g.109970C>G, NM_153834.4:c.8895C>A, NM_153834.4:c.8895C>G, NM_153834.3:c.8895C>A, NM_153834.3:c.8895C>G, XM_011531269.3:c.8895C>A, XM_011531269.3:c.8895C>G, XM_011531269.2:c.8895C>A, XM_011531269.2:c.8895C>G, XM_011531269.1:c.8895C>A, XM_011531269.1:c.8895C>G, XM_011531271.3:c.8706C>A, XM_011531271.3:c.8706C>G, XM_011531271.2:c.8706C>A, XM_011531271.2:c.8706C>G, XM_011531271.1:c.8706C>A, XM_011531271.1:c.8706C>G, XM_047441830.1:c.8760C>A, XM_047441830.1:c.8760C>G, NP_722576.3:p.Asn2965Lys, NP_722576.3:p.Asn2965Lys, XP_011529571.1:p.Asn2965Lys, XP_011529571.1:p.Asn2965Lys, XP_011529573.1:p.Asn2902Lys, XP_011529573.1:p.Asn2902Lys, XP_047297786.1:p.Asn2920Lys, XP_047297786.1:p.Asn2920Lys

Select item 14906058163.

rs1490605816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:136346740 (GRCh38)
X:135428899 (GRCh37)
Canonical SPDI:: NC_000023.11:136346739:A:T
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136346740A>T, NC_000023.10:g.135428899A>T, NG_021219.1:g.50778A>T, NM_153834.4:c.3034A>T, NM_153834.3:c.3034A>T, XM_011531269.3:c.3034A>T, XM_011531269.2:c.3034A>T, XM_011531269.1:c.3034A>T, XM_011531271.3:c.2845A>T, XM_011531271.2:c.2845A>T, XM_011531271.1:c.2845A>T, XM_047441830.1:c.3034A>T, XM_047441831.1:c.3034A>T, NP_722576.3:p.Thr1012Ser, XP_011529571.1:p.Thr1012Ser, XP_011529573.1:p.Thr949Ser, XP_047297786.1:p.Thr1012Ser, XP_047297787.1:p.Thr1012Ser

Select item 14901046294.

rs1490104629 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:136347956 (GRCh38)
X:135430115 (GRCh37)
Canonical SPDI:: NC_000023.11:136347955:A:T
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136347956A>T, NC_000023.10:g.135430115A>T, NG_021219.1:g.51994A>T, NM_153834.4:c.4250A>T, NM_153834.3:c.4250A>T, XM_011531269.3:c.4250A>T, XM_011531269.2:c.4250A>T, XM_011531269.1:c.4250A>T, XM_011531271.3:c.4061A>T, XM_011531271.2:c.4061A>T, XM_011531271.1:c.4061A>T, XM_047441830.1:c.4250A>T, XM_047441831.1:c.4250A>T, NP_722576.3:p.Asp1417Val, XP_011529571.1:p.Asp1417Val, XP_011529573.1:p.Asp1354Val, XP_047297786.1:p.Asp1417Val, XP_047297787.1:p.Asp1417Val

Select item 14899403605.

rs1489940360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136346194 (GRCh38)
X:135428353 (GRCh37)
Canonical SPDI:: NC_000023.11:136346193:G:A
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000023.11:g.136346194G>A, NC_000023.10:g.135428353G>A, NG_021219.1:g.50232G>A, NM_153834.4:c.2488G>A, NM_153834.3:c.2488G>A, XM_011531269.3:c.2488G>A, XM_011531269.2:c.2488G>A, XM_011531269.1:c.2488G>A, XM_011531271.3:c.2299G>A, XM_011531271.2:c.2299G>A, XM_011531271.1:c.2299G>A, XM_047441830.1:c.2488G>A, XM_047441831.1:c.2488G>A, NP_722576.3:p.Ala830Thr, XP_011529571.1:p.Ala830Thr, XP_011529573.1:p.Ala767Thr, XP_047297786.1:p.Ala830Thr, XP_047297787.1:p.Ala830Thr

Select item 14891761556.

rs1489176155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136344449 (GRCh38)
X:135426608 (GRCh37)
Canonical SPDI:: NC_000023.11:136344448:A:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136344449A>G, NC_000023.10:g.135426608A>G, NG_021219.1:g.48487A>G, NM_153834.4:c.743A>G, NM_153834.3:c.743A>G, XM_011531269.3:c.743A>G, XM_011531269.2:c.743A>G, XM_011531269.1:c.743A>G, XM_011531271.3:c.554A>G, XM_011531271.2:c.554A>G, XM_011531271.1:c.554A>G, XM_047441830.1:c.743A>G, XM_047441831.1:c.743A>G, NP_722576.3:p.Asp248Gly, XP_011529571.1:p.Asp248Gly, XP_011529573.1:p.Asp185Gly, XP_047297786.1:p.Asp248Gly, XP_047297787.1:p.Asp248Gly

Select item 14883287747.

rs1488328774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136347781 (GRCh38)
X:135429940 (GRCh37)
Canonical SPDI:: NC_000023.11:136347780:A:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.136347781A>G, NC_000023.10:g.135429940A>G, NG_021219.1:g.51819A>G, NM_153834.4:c.4075A>G, NM_153834.3:c.4075A>G, XM_011531269.3:c.4075A>G, XM_011531269.2:c.4075A>G, XM_011531269.1:c.4075A>G, XM_011531271.3:c.3886A>G, XM_011531271.2:c.3886A>G, XM_011531271.1:c.3886A>G, XM_047441830.1:c.4075A>G, XM_047441831.1:c.4075A>G, NP_722576.3:p.Ser1359Gly, XP_011529571.1:p.Ser1359Gly, XP_011529573.1:p.Ser1296Gly, XP_047297786.1:p.Ser1359Gly, XP_047297787.1:p.Ser1359Gly

Select item 14880480198.

rs1488048019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136323131 (GRCh38)
X:135405290 (GRCh37)
Canonical SPDI:: NC_000023.11:136323130:A:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.136323131A>G, NC_000023.10:g.135405290A>G, NG_021219.1:g.27169A>G, NM_153834.4:c.424A>G, NM_153834.3:c.424A>G, XM_011531269.3:c.424A>G, XM_011531269.2:c.424A>G, XM_011531269.1:c.424A>G, XM_011531271.3:c.235A>G, XM_011531271.2:c.235A>G, XM_011531271.1:c.235A>G, XM_047441830.1:c.424A>G, XM_047441831.1:c.424A>G, NP_722576.3:p.Ile142Val, XP_011529571.1:p.Ile142Val, XP_011529573.1:p.Ile79Val, XP_047297786.1:p.Ile142Val, XP_047297787.1:p.Ile142Val

Select item 14875030079.

rs1487503007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136405920 (GRCh38)
X:135488079 (GRCh37)
Canonical SPDI:: NC_000023.11:136405919:A:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136405920A>G, NC_000023.10:g.135488079A>G, NG_021219.1:g.109958A>G, NM_153834.4:c.8883A>G, NM_153834.3:c.8883A>G, XM_011531269.3:c.8883A>G, XM_011531269.2:c.8883A>G, XM_011531269.1:c.8883A>G, XM_011531271.3:c.8694A>G, XM_011531271.2:c.8694A>G, XM_011531271.1:c.8694A>G, XM_047441830.1:c.8748A>G

Select item 148698905310.

rs1486989053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136349858 (GRCh38)
X:135432017 (GRCh37)
Canonical SPDI:: NC_000023.11:136349857:A:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136349858A>G, NC_000023.10:g.135432017A>G, NG_021219.1:g.53896A>G, NM_153834.4:c.6152A>G, NM_153834.3:c.6152A>G, XM_011531269.3:c.6152A>G, XM_011531269.2:c.6152A>G, XM_011531269.1:c.6152A>G, XM_011531271.3:c.5963A>G, XM_011531271.2:c.5963A>G, XM_011531271.1:c.5963A>G, XM_047441830.1:c.6152A>G, XM_047441831.1:c.6152A>G, NP_722576.3:p.His2051Arg, XP_011529571.1:p.His2051Arg, XP_011529573.1:p.His1988Arg, XP_047297786.1:p.His2051Arg, XP_047297787.1:p.His2051Arg

Select item 148643317911.

rs1486433179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136349438 (GRCh38)
X:135431597 (GRCh37)
Canonical SPDI:: NC_000023.11:136349437:C:T
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136349438C>T, NC_000023.10:g.135431597C>T, NG_021219.1:g.53476C>T, NM_153834.4:c.5732C>T, NM_153834.3:c.5732C>T, XM_011531269.3:c.5732C>T, XM_011531269.2:c.5732C>T, XM_011531269.1:c.5732C>T, XM_011531271.3:c.5543C>T, XM_011531271.2:c.5543C>T, XM_011531271.1:c.5543C>T, XM_047441830.1:c.5732C>T, XM_047441831.1:c.5732C>T, NP_722576.3:p.Thr1911Ile, XP_011529571.1:p.Thr1911Ile, XP_011529573.1:p.Thr1848Ile, XP_047297786.1:p.Thr1911Ile, XP_047297787.1:p.Thr1911Ile

Select item 148548660012.

rs1485486600 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:136347133 (GRCh38)
X:135429292 (GRCh37)
Canonical SPDI:: NC_000023.11:136347130:CTCT:CT
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.136347131CT[1], NC_000023.10:g.135429290CT[1], NG_021219.1:g.51169CT[1], NM_153834.4:c.3427_3428del, NM_153834.3:c.3427_3428del, XM_011531269.3:c.3427_3428del, XM_011531269.2:c.3427_3428del, XM_011531269.1:c.3427_3428del, XM_011531271.3:c.3238_3239del, XM_011531271.2:c.3238_3239del, XM_011531271.1:c.3238_3239del, XM_047441830.1:c.3427_3428del, XM_047441831.1:c.3427_3428del, NP_722576.3:p.Leu1143fs, XP_011529571.1:p.Leu1143fs, XP_011529573.1:p.Leu1080fs, XP_047297786.1:p.Leu1143fs, XP_047297787.1:p.Leu1143fs

Select item 148524616813.

rs1485246168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136347837 (GRCh38)
X:135429996 (GRCh37)
Canonical SPDI:: NC_000023.11:136347836:T:C
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.136347837T>C, NC_000023.10:g.135429996T>C, NG_021219.1:g.51875T>C, NM_153834.4:c.4131T>C, NM_153834.3:c.4131T>C, XM_011531269.3:c.4131T>C, XM_011531269.2:c.4131T>C, XM_011531269.1:c.4131T>C, XM_011531271.3:c.3942T>C, XM_011531271.2:c.3942T>C, XM_011531271.1:c.3942T>C, XM_047441830.1:c.4131T>C, XM_047441831.1:c.4131T>C

Select item 148502767614.

rs1485027676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:136346431 (GRCh38)
X:135428590 (GRCh37)
Canonical SPDI:: NC_000023.11:136346430:A:C
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136346431A>C, NC_000023.10:g.135428590A>C, NG_021219.1:g.50469A>C, NM_153834.4:c.2725A>C, NM_153834.3:c.2725A>C, XM_011531269.3:c.2725A>C, XM_011531269.2:c.2725A>C, XM_011531269.1:c.2725A>C, XM_011531271.3:c.2536A>C, XM_011531271.2:c.2536A>C, XM_011531271.1:c.2536A>C, XM_047441830.1:c.2725A>C, XM_047441831.1:c.2725A>C, NP_722576.3:p.Ser909Arg, XP_011529571.1:p.Ser909Arg, XP_011529573.1:p.Ser846Arg, XP_047297786.1:p.Ser909Arg, XP_047297787.1:p.Ser909Arg

Select item 148429687615.

rs1484296876 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136323344 (GRCh38)
X:135405503 (GRCh37)
Canonical SPDI:: NC_000023.11:136323343:T:C
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136323344T>C, NC_000023.10:g.135405503T>C, NG_021219.1:g.27382T>C, NM_153834.4:c.637T>C, NM_153834.3:c.637T>C, XM_011531269.3:c.637T>C, XM_011531269.2:c.637T>C, XM_011531269.1:c.637T>C, XM_011531271.3:c.448T>C, XM_011531271.2:c.448T>C, XM_011531271.1:c.448T>C, XM_047441830.1:c.637T>C, XM_047441831.1:c.637T>C, NP_722576.3:p.Trp213Arg, XP_011529571.1:p.Trp213Arg, XP_011529573.1:p.Trp150Arg, XP_047297786.1:p.Trp213Arg, XP_047297787.1:p.Trp213Arg

Select item 148422554316.

rs1484225543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136347693 (GRCh38)
X:135429852 (GRCh37)
Canonical SPDI:: NC_000023.11:136347692:T:C
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136347693T>C, NC_000023.10:g.135429852T>C, NG_021219.1:g.51731T>C, NM_153834.4:c.3987T>C, NM_153834.3:c.3987T>C, XM_011531269.3:c.3987T>C, XM_011531269.2:c.3987T>C, XM_011531269.1:c.3987T>C, XM_011531271.3:c.3798T>C, XM_011531271.2:c.3798T>C, XM_011531271.1:c.3798T>C, XM_047441830.1:c.3987T>C, XM_047441831.1:c.3987T>C

Select item 148380537117.

rs1483805371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:136371451 (GRCh38)
X:135453610 (GRCh37)
Canonical SPDI:: NC_000023.11:136371450:G:C
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136371451G>C, NC_000023.10:g.135453610G>C, NG_021219.1:g.75489G>C, NM_153834.4:c.7520G>C, NM_153834.3:c.7520G>C, XM_011531269.3:c.7520G>C, XM_011531269.2:c.7520G>C, XM_011531269.1:c.7520G>C, XM_011531271.3:c.7331G>C, XM_011531271.2:c.7331G>C, XM_011531271.1:c.7331G>C, XM_047441830.1:c.7520G>C, XM_047441831.1:c.7520G>C, NP_722576.3:p.Ser2507Thr, XP_011529571.1:p.Ser2507Thr, XP_011529573.1:p.Ser2444Thr, XP_047297786.1:p.Ser2507Thr, XP_047297787.1:p.Ser2507Thr

Select item 148316713118.

rs1483167131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136348511 (GRCh38)
X:135430670 (GRCh37)
Canonical SPDI:: NC_000023.11:136348510:C:T
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.136348511C>T, NC_000023.10:g.135430670C>T, NG_021219.1:g.52549C>T, NM_153834.4:c.4805C>T, NM_153834.3:c.4805C>T, XM_011531269.3:c.4805C>T, XM_011531269.2:c.4805C>T, XM_011531269.1:c.4805C>T, XM_011531271.3:c.4616C>T, XM_011531271.2:c.4616C>T, XM_011531271.1:c.4616C>T, XM_047441830.1:c.4805C>T, XM_047441831.1:c.4805C>T, NP_722576.3:p.Thr1602Ile, XP_011529571.1:p.Thr1602Ile, XP_011529573.1:p.Thr1539Ile, XP_047297786.1:p.Thr1602Ile, XP_047297787.1:p.Thr1602Ile

Select item 148280489919.

rs1482804899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136349105 (GRCh38)
X:135431264 (GRCh37)
Canonical SPDI:: NC_000023.11:136349104:C:T
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136349105C>T, NC_000023.10:g.135431264C>T, NG_021219.1:g.53143C>T, NM_153834.4:c.5399C>T, NM_153834.3:c.5399C>T, XM_011531269.3:c.5399C>T, XM_011531269.2:c.5399C>T, XM_011531269.1:c.5399C>T, XM_011531271.3:c.5210C>T, XM_011531271.2:c.5210C>T, XM_011531271.1:c.5210C>T, XM_047441830.1:c.5399C>T, XM_047441831.1:c.5399C>T, NP_722576.3:p.Ser1800Phe, XP_011529571.1:p.Ser1800Phe, XP_011529573.1:p.Ser1737Phe, XP_047297786.1:p.Ser1800Phe, XP_047297787.1:p.Ser1800Phe

Select item 148082214420.

rs1480822144 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:136347155 (GRCh38)
X:135429314 (GRCh37)
Canonical SPDI:: NC_000023.11:136347154:C:A,NC_000023.11:136347154:C:G
Gene:: ADGRG4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136347155C>A, NC_000023.11:g.136347155C>G, NC_000023.10:g.135429314C>A, NC_000023.10:g.135429314C>G, NG_021219.1:g.51193C>A, NG_021219.1:g.51193C>G, NM_153834.4:c.3449C>A, NM_153834.4:c.3449C>G, NM_153834.3:c.3449C>A, NM_153834.3:c.3449C>G, XM_011531269.3:c.3449C>A, XM_011531269.3:c.3449C>G, XM_011531269.2:c.3449C>A, XM_011531269.2:c.3449C>G, XM_011531269.1:c.3449C>A, XM_011531269.1:c.3449C>G, XM_011531271.3:c.3260C>A, XM_011531271.3:c.3260C>G, XM_011531271.2:c.3260C>A, XM_011531271.2:c.3260C>G, XM_011531271.1:c.3260C>A, XM_011531271.1:c.3260C>G, XM_047441830.1:c.3449C>A, XM_047441830.1:c.3449C>G, XM_047441831.1:c.3449C>A, XM_047441831.1:c.3449C>G, NP_722576.3:p.Pro1150His, NP_722576.3:p.Pro1150Arg, XP_011529571.1:p.Pro1150His, XP_011529571.1:p.Pro1150Arg, XP_011529573.1:p.Pro1087His, XP_011529573.1:p.Pro1087Arg, XP_047297786.1:p.Pro1150His, XP_047297786.1:p.Pro1150Arg, XP_047297787.1:p.Pro1150His, XP_047297787.1:p.Pro1150Arg

<< First< Prev

Page of 113

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 2253

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity