SNP Links for Protein (Select 767915148) - SNP

Links from Protein

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Select item 14879483081.

rs1487948308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:75680210 (GRCh38)
2:75907336 (GRCh37)
Canonical SPDI:: NC_000002.12:75680209:C:T
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.75680210C>T, NC_000002.11:g.75907336C>T, XM_005264520.5:c.1819G>A, XM_005264520.4:c.1819G>A, XM_005264520.3:c.1819G>A, XM_005264520.2:c.1819G>A, XM_005264520.1:c.1819G>A, NM_003203.5:c.1795G>A, NM_003203.4:c.1795G>A, XM_011533074.4:c.1570G>A, XM_011533074.3:c.1570G>A, XM_011533074.2:c.1570G>A, XM_011533074.1:c.1570G>A, NM_001201334.2:c.1288G>A, NM_001201334.1:c.1288G>A, XM_047445615.1:c.1288G>A, XM_047445613.1:c.1705G>A, XM_047445614.1:c.1681G>A, NM_001410845.1:c.1681G>A, XP_005264577.1:p.Val607Ile, NP_003194.3:p.Val599Ile, XP_011531376.1:p.Val524Ile, NP_001188263.1:p.Val430Ile, XP_047301571.1:p.Val430Ile, XP_047301569.1:p.Val569Ile, XP_047301570.1:p.Val561Ile

Select item 14871724532.

rs1487172453 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:75687874 (GRCh38)
2:75915001 (GRCh37)
Canonical SPDI:: NC_000002.12:75687874::A
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.75687874_75687875insA, NC_000002.11:g.75915000_75915001insA, XM_005264520.5:c.1666_1667insT, XM_005264520.4:c.1666_1667insT, XM_005264520.3:c.1666_1667insT, XM_005264520.2:c.1666_1667insT, XM_005264520.1:c.1666_1667insT, NM_003203.5:c.1642_1643insT, NM_003203.4:c.1642_1643insT, XM_011533074.4:c.1417_1418insT, XM_011533074.3:c.1417_1418insT, XM_011533074.2:c.1417_1418insT, XM_011533074.1:c.1417_1418insT, NM_001201334.2:c.1135_1136insT, NM_001201334.1:c.1135_1136insT, XM_047445615.1:c.1135_1136insT, XM_047445613.1:c.1552_1553insT, XM_047445614.1:c.1528_1529insT, NM_001410845.1:c.1528_1529insT, XR_007080682.1:n.1726_1727insT, XP_005264577.1:p.Lys556fs, NP_003194.3:p.Lys548fs, XP_011531376.1:p.Lys473fs, NP_001188263.1:p.Lys379fs, XP_047301571.1:p.Lys379fs, XP_047301569.1:p.Lys518fs, XP_047301570.1:p.Lys510fs

Select item 14870703563.

rs1487070356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:75710636 (GRCh38)
2:75937762 (GRCh37)
Canonical SPDI:: NC_000002.12:75710635:A:G
Gene:: GCFC2 (Varview), LOC105374813 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75710636A>G, NC_000002.11:g.75937762A>G, XM_005264520.5:c.220T>C, XM_005264520.4:c.220T>C, XM_005264520.3:c.220T>C, XM_005264520.2:c.220T>C, XM_005264520.1:c.220T>C, NM_003203.5:c.220T>C, NM_003203.4:c.220T>C, XM_011533074.4:c.220T>C, XM_011533074.3:c.220T>C, XM_011533074.2:c.220T>C, XM_011533074.1:c.220T>C, XM_017004787.3:c.220T>C, XM_017004787.2:c.220T>C, XM_017004787.1:c.220T>C, XM_011533075.3:c.220T>C, XM_011533075.2:c.220T>C, XM_011533075.1:c.220T>C, NM_001201334.2:c.-435T>C, NM_001201335.2:c.220T>C, NM_001201335.1:c.220T>C, XM_047445613.1:c.220T>C, XM_047445614.1:c.220T>C, NM_001410845.1:c.220T>C, XR_007080682.1:n.280T>C, XP_005264577.1:p.Ser74Pro, NP_003194.3:p.Ser74Pro, XP_011531376.1:p.Ser74Pro, XP_016860276.1:p.Ser74Pro, XP_011531377.1:p.Ser74Pro, NP_001188264.1:p.Ser74Pro, XP_047301569.1:p.Ser74Pro, XP_047301570.1:p.Ser74Pro

Select item 14868500844.

rs1486850084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:75710655 (GRCh38)
2:75937781 (GRCh37)
Canonical SPDI:: NC_000002.12:75710654:C:G
Gene:: GCFC2 (Varview), LOC105374813 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.75710655C>G, NC_000002.11:g.75937781C>G, XM_005264520.5:c.201G>C, XM_005264520.4:c.201G>C, XM_005264520.3:c.201G>C, XM_005264520.2:c.201G>C, XM_005264520.1:c.201G>C, NM_003203.5:c.201G>C, NM_003203.4:c.201G>C, XM_011533074.4:c.201G>C, XM_011533074.3:c.201G>C, XM_011533074.2:c.201G>C, XM_011533074.1:c.201G>C, XM_017004787.3:c.201G>C, XM_017004787.2:c.201G>C, XM_017004787.1:c.201G>C, XM_011533075.3:c.201G>C, XM_011533075.2:c.201G>C, XM_011533075.1:c.201G>C, NM_001201334.2:c.-454G>C, NM_001201335.2:c.201G>C, NM_001201335.1:c.201G>C, XM_047445613.1:c.201G>C, XM_047445614.1:c.201G>C, NM_001410845.1:c.201G>C, XR_007080682.1:n.261G>C

Select item 14865799955.

rs1486579995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:75689122 (GRCh38)
2:75916248 (GRCh37)
Canonical SPDI:: NC_000002.12:75689121:A:C
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.75689122A>C, NC_000002.11:g.75916248A>C, XM_005264520.5:c.1467T>G, XM_005264520.4:c.1467T>G, XM_005264520.3:c.1467T>G, XM_005264520.2:c.1467T>G, XM_005264520.1:c.1467T>G, NM_003203.5:c.1443T>G, NM_003203.4:c.1443T>G, XM_011533074.4:c.1218T>G, XM_011533074.3:c.1218T>G, XM_011533074.2:c.1218T>G, XM_011533074.1:c.1218T>G, NM_001201334.2:c.936T>G, NM_001201334.1:c.936T>G, XM_047445615.1:c.936T>G, XM_047445613.1:c.1353T>G, XM_047445614.1:c.1329T>G, NM_001410845.1:c.1329T>G, XR_007080682.1:n.1527T>G, XP_005264577.1:p.Phe489Leu, NP_003194.3:p.Phe481Leu, XP_011531376.1:p.Phe406Leu, NP_001188263.1:p.Phe312Leu, XP_047301571.1:p.Phe312Leu, XP_047301569.1:p.Phe451Leu, XP_047301570.1:p.Phe443Leu

Select item 14864168626.

rs1486416862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:75706568 (GRCh38)
2:75933694 (GRCh37)
Canonical SPDI:: NC_000002.12:75706567:A:C
Gene:: GCFC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75706568A>C, NC_000002.11:g.75933694A>C, XM_005264520.5:c.349T>G, XM_005264520.4:c.349T>G, XM_005264520.3:c.349T>G, XM_005264520.2:c.349T>G, XM_005264520.1:c.349T>G, NM_003203.5:c.349T>G, NM_003203.4:c.349T>G, XM_011533074.4:c.349T>G, XM_011533074.3:c.349T>G, XM_011533074.2:c.349T>G, XM_011533074.1:c.349T>G, XM_017004787.3:c.349T>G, XM_017004787.2:c.349T>G, XM_017004787.1:c.349T>G, XM_011533075.3:c.349T>G, XM_011533075.2:c.349T>G, XM_011533075.1:c.349T>G, NM_001201334.2:c.-159T>G, NM_001201334.1:c.-159T>G, NM_001201335.2:c.349T>G, NM_001201335.1:c.349T>G, XM_047445615.1:c.-159T>G, XM_047445613.1:c.349T>G, XM_047445614.1:c.349T>G, NM_001410845.1:c.349T>G, XR_007080682.1:n.409T>G, XP_005264577.1:p.Ser117Ala, NP_003194.3:p.Ser117Ala, XP_011531376.1:p.Ser117Ala, XP_016860276.1:p.Ser117Ala, XP_011531377.1:p.Ser117Ala, NP_001188264.1:p.Ser117Ala, XP_047301569.1:p.Ser117Ala, XP_047301570.1:p.Ser117Ala

Select item 14855698197.

rs1485569819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:75689132 (GRCh38)
2:75916258 (GRCh37)
Canonical SPDI:: NC_000002.12:75689131:C:T
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.00003/8 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.75689132C>T, NC_000002.11:g.75916258C>T, XM_005264520.5:c.1457G>A, XM_005264520.4:c.1457G>A, XM_005264520.3:c.1457G>A, XM_005264520.2:c.1457G>A, XM_005264520.1:c.1457G>A, NM_003203.5:c.1433G>A, NM_003203.4:c.1433G>A, XM_011533074.4:c.1208G>A, XM_011533074.3:c.1208G>A, XM_011533074.2:c.1208G>A, XM_011533074.1:c.1208G>A, NM_001201334.2:c.926G>A, NM_001201334.1:c.926G>A, XM_047445615.1:c.926G>A, XM_047445613.1:c.1343G>A, XM_047445614.1:c.1319G>A, NM_001410845.1:c.1319G>A, XR_007080682.1:n.1517G>A, XP_005264577.1:p.Arg486Gln, NP_003194.3:p.Arg478Gln, XP_011531376.1:p.Arg403Gln, NP_001188263.1:p.Arg309Gln, XP_047301571.1:p.Arg309Gln, XP_047301569.1:p.Arg448Gln, XP_047301570.1:p.Arg440Gln

Select item 14846224838.

rs1484622483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:75692029 (GRCh38)
2:75919155 (GRCh37)
Canonical SPDI:: NC_000002.12:75692028:T:C
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.75692029T>C, NC_000002.11:g.75919155T>C, XM_005264520.5:c.1116A>G, XM_005264520.4:c.1116A>G, XM_005264520.3:c.1116A>G, XM_005264520.2:c.1116A>G, XM_005264520.1:c.1116A>G, NM_003203.5:c.1092A>G, NM_003203.4:c.1092A>G, XM_011533074.4:c.867A>G, XM_011533074.3:c.867A>G, XM_011533074.2:c.867A>G, XM_011533074.1:c.867A>G, XM_017004787.3:c.1116A>G, XM_017004787.2:c.1116A>G, XM_017004787.1:c.1116A>G, XM_011533075.3:c.1116A>G, XM_011533075.2:c.1116A>G, XM_011533075.1:c.1116A>G, NM_001201334.2:c.585A>G, NM_001201334.1:c.585A>G, XM_047445615.1:c.585A>G, XM_047445613.1:c.1002A>G, XM_047445614.1:c.978A>G, NM_001410845.1:c.978A>G, XR_007080682.1:n.1176A>G

Select item 14821064989.

rs1482106498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:75672013 (GRCh38)
2:75899139 (GRCh37)
Canonical SPDI:: NC_000002.12:75672012:A:G
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.75672013A>G, NC_000002.11:g.75899139A>G, XM_005264520.5:c.1917T>C, XM_005264520.4:c.1917T>C, XM_005264520.3:c.1917T>C, XM_005264520.2:c.1917T>C, XM_005264520.1:c.1917T>C, NM_003203.5:c.1893T>C, NM_003203.4:c.1893T>C, XM_011533074.4:c.1668T>C, XM_011533074.3:c.1668T>C, XM_011533074.2:c.1668T>C, XM_011533074.1:c.1668T>C, NM_001201334.2:c.1386T>C, NM_001201334.1:c.1386T>C, XM_047445615.1:c.1386T>C, XM_047445613.1:c.1803T>C, XM_047445614.1:c.1779T>C, NM_001410845.1:c.1779T>C, XR_007080682.1:n.1855T>C

Select item 148142025610.

rs1481420256 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:75706532 (GRCh38)
2:75933658 (GRCh37)
Canonical SPDI:: NC_000002.12:75706531:A:G
Gene:: GCFC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.75706532A>G, NC_000002.11:g.75933658A>G, XM_005264520.5:c.385T>C, XM_005264520.4:c.385T>C, XM_005264520.3:c.385T>C, XM_005264520.2:c.385T>C, XM_005264520.1:c.385T>C, NM_003203.5:c.385T>C, NM_003203.4:c.385T>C, XM_011533074.4:c.385T>C, XM_011533074.3:c.385T>C, XM_011533074.2:c.385T>C, XM_011533074.1:c.385T>C, XM_017004787.3:c.385T>C, XM_017004787.2:c.385T>C, XM_017004787.1:c.385T>C, XM_011533075.3:c.385T>C, XM_011533075.2:c.385T>C, XM_011533075.1:c.385T>C, NM_001201334.2:c.-123T>C, NM_001201334.1:c.-123T>C, NM_001201335.2:c.385T>C, NM_001201335.1:c.385T>C, XM_047445615.1:c.-123T>C, XM_047445613.1:c.385T>C, XM_047445614.1:c.385T>C, NM_001410845.1:c.385T>C, XR_007080682.1:n.445T>C, XP_005264577.1:p.Ser129Pro, NP_003194.3:p.Ser129Pro, XP_011531376.1:p.Ser129Pro, XP_016860276.1:p.Ser129Pro, XP_011531377.1:p.Ser129Pro, NP_001188264.1:p.Ser129Pro, XP_047301569.1:p.Ser129Pro, XP_047301570.1:p.Ser129Pro

Select item 147927214711.

rs1479272147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:75694289 (GRCh38)
2:75921415 (GRCh37)
Canonical SPDI:: NC_000002.12:75694288:T:C
Gene:: GCFC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.75694289T>C, NC_000002.11:g.75921415T>C, XM_005264520.5:c.996A>G, XM_005264520.4:c.996A>G, XM_005264520.3:c.996A>G, XM_005264520.2:c.996A>G, XM_005264520.1:c.996A>G, NM_003203.5:c.972A>G, NM_003203.4:c.972A>G, XM_011533074.4:c.747A>G, XM_011533074.3:c.747A>G, XM_011533074.2:c.747A>G, XM_011533074.1:c.747A>G, XM_017004787.3:c.996A>G, XM_017004787.2:c.996A>G, XM_017004787.1:c.996A>G, XM_011533075.3:c.996A>G, XM_011533075.2:c.996A>G, XM_011533075.1:c.996A>G, NM_001201334.2:c.465A>G, NM_001201334.1:c.465A>G, XM_047445615.1:c.465A>G, XM_047445613.1:c.882A>G, XM_047445614.1:c.858A>G, NM_001410845.1:c.858A>G, XR_007080682.1:n.1056A>G

Select item 147897630512.

rs1478976305 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 2:75689188 (GRCh38)
2:75916314 (GRCh37)
Canonical SPDI:: NC_000002.12:75689187:T:A,NC_000002.12:75689187:T:G
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.75689188T>A, NC_000002.12:g.75689188T>G, NC_000002.11:g.75916314T>A, NC_000002.11:g.75916314T>G, XM_005264520.5:c.1401A>T, XM_005264520.5:c.1401A>C, XM_005264520.4:c.1401A>T, XM_005264520.4:c.1401A>C, XM_005264520.3:c.1401A>T, XM_005264520.3:c.1401A>C, XM_005264520.2:c.1401A>T, XM_005264520.2:c.1401A>C, XM_005264520.1:c.1401A>T, XM_005264520.1:c.1401A>C, NM_003203.5:c.1377A>T, NM_003203.5:c.1377A>C, NM_003203.4:c.1377A>T, NM_003203.4:c.1377A>C, XM_011533074.4:c.1152A>T, XM_011533074.4:c.1152A>C, XM_011533074.3:c.1152A>T, XM_011533074.3:c.1152A>C, XM_011533074.2:c.1152A>T, XM_011533074.2:c.1152A>C, XM_011533074.1:c.1152A>T, XM_011533074.1:c.1152A>C, NM_001201334.2:c.870A>T, NM_001201334.2:c.870A>C, NM_001201334.1:c.870A>T, NM_001201334.1:c.870A>C, XM_047445615.1:c.870A>T, XM_047445615.1:c.870A>C, XM_047445613.1:c.1287A>T, XM_047445613.1:c.1287A>C, XM_047445614.1:c.1263A>T, XM_047445614.1:c.1263A>C, NM_001410845.1:c.1263A>T, NM_001410845.1:c.1263A>C, XR_007080682.1:n.1461A>T, XR_007080682.1:n.1461A>C, XP_005264577.1:p.Glu467Asp, XP_005264577.1:p.Glu467Asp, NP_003194.3:p.Glu459Asp, NP_003194.3:p.Glu459Asp, XP_011531376.1:p.Glu384Asp, XP_011531376.1:p.Glu384Asp, NP_001188263.1:p.Glu290Asp, NP_001188263.1:p.Glu290Asp, XP_047301571.1:p.Glu290Asp, XP_047301571.1:p.Glu290Asp, XP_047301569.1:p.Glu429Asp, XP_047301569.1:p.Glu429Asp, XP_047301570.1:p.Glu421Asp, XP_047301570.1:p.Glu421Asp

Select item 147769877713.

rs1477698777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:75706606 (GRCh38)
2:75933732 (GRCh37)
Canonical SPDI:: NC_000002.12:75706605:T:C,NC_000002.12:75706605:T:G
Gene:: GCFC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.75706606T>C, NC_000002.12:g.75706606T>G, NC_000002.11:g.75933732T>C, NC_000002.11:g.75933732T>G, XM_005264520.5:c.311A>G, XM_005264520.5:c.311A>C, XM_005264520.4:c.311A>G, XM_005264520.4:c.311A>C, XM_005264520.3:c.311A>G, XM_005264520.3:c.311A>C, XM_005264520.2:c.311A>G, XM_005264520.2:c.311A>C, XM_005264520.1:c.311A>G, XM_005264520.1:c.311A>C, NM_003203.5:c.311A>G, NM_003203.5:c.311A>C, NM_003203.4:c.311A>G, NM_003203.4:c.311A>C, XM_011533074.4:c.311A>G, XM_011533074.4:c.311A>C, XM_011533074.3:c.311A>G, XM_011533074.3:c.311A>C, XM_011533074.2:c.311A>G, XM_011533074.2:c.311A>C, XM_011533074.1:c.311A>G, XM_011533074.1:c.311A>C, XM_017004787.3:c.311A>G, XM_017004787.3:c.311A>C, XM_017004787.2:c.311A>G, XM_017004787.2:c.311A>C, XM_017004787.1:c.311A>G, XM_017004787.1:c.311A>C, XM_011533075.3:c.311A>G, XM_011533075.3:c.311A>C, XM_011533075.2:c.311A>G, XM_011533075.2:c.311A>C, XM_011533075.1:c.311A>G, XM_011533075.1:c.311A>C, NM_001201334.2:c.-197A>G, NM_001201334.2:c.-197A>C, NM_001201334.1:c.-197A>G, NM_001201334.1:c.-197A>C, NM_001201335.2:c.311A>G, NM_001201335.2:c.311A>C, NM_001201335.1:c.311A>G, NM_001201335.1:c.311A>C, XM_047445615.1:c.-197A>G, XM_047445615.1:c.-197A>C, XM_047445613.1:c.311A>G, XM_047445613.1:c.311A>C, XM_047445614.1:c.311A>G, XM_047445614.1:c.311A>C, NM_001410845.1:c.311A>G, NM_001410845.1:c.311A>C, XR_007080682.1:n.371A>G, XR_007080682.1:n.371A>C, XP_005264577.1:p.His104Arg, XP_005264577.1:p.His104Pro, NP_003194.3:p.His104Arg, NP_003194.3:p.His104Pro, XP_011531376.1:p.His104Arg, XP_011531376.1:p.His104Pro, XP_016860276.1:p.His104Arg, XP_016860276.1:p.His104Pro, XP_011531377.1:p.His104Arg, XP_011531377.1:p.His104Pro, NP_001188264.1:p.His104Arg, NP_001188264.1:p.His104Pro, XP_047301569.1:p.His104Arg, XP_047301569.1:p.His104Pro, XP_047301570.1:p.His104Arg, XP_047301570.1:p.His104Pro

Select item 147709351214.

rs1477093512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:75670175 (GRCh38)
2:75897301 (GRCh37)
Canonical SPDI:: NC_000002.12:75670174:G:T
Gene:: GCFC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75670175G>T, NC_000002.11:g.75897301G>T, XM_005264520.5:c.2090C>A, XM_005264520.4:c.2090C>A, XM_005264520.3:c.2090C>A, XM_005264520.2:c.2090C>A, XM_005264520.1:c.2090C>A, NM_003203.5:c.2066C>A, NM_003203.4:c.2066C>A, XM_011533074.4:c.1841C>A, XM_011533074.3:c.1841C>A, XM_011533074.2:c.1841C>A, XM_011533074.1:c.1841C>A, NM_001201334.2:c.1559C>A, NM_001201334.1:c.1559C>A, XM_047445615.1:c.1559C>A, XM_047445613.1:c.1976C>A, XM_047445614.1:c.1952C>A, NM_001410845.1:c.1952C>A, XP_005264577.1:p.Ala697Asp, NP_003194.3:p.Ala689Asp, XP_011531376.1:p.Ala614Asp, NP_001188263.1:p.Ala520Asp, XP_047301571.1:p.Ala520Asp, XP_047301569.1:p.Ala659Asp, XP_047301570.1:p.Ala651Asp

Select item 147638975815.

rs1476389758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:75687835 (GRCh38)
2:75914961 (GRCh37)
Canonical SPDI:: NC_000002.12:75687834:C:T
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.75687835C>T, NC_000002.11:g.75914961C>T, XM_005264520.5:c.1706G>A, XM_005264520.4:c.1706G>A, XM_005264520.3:c.1706G>A, XM_005264520.2:c.1706G>A, XM_005264520.1:c.1706G>A, NM_003203.5:c.1682G>A, NM_003203.4:c.1682G>A, XM_011533074.4:c.1457G>A, XM_011533074.3:c.1457G>A, XM_011533074.2:c.1457G>A, XM_011533074.1:c.1457G>A, NM_001201334.2:c.1175G>A, NM_001201334.1:c.1175G>A, XM_047445615.1:c.1175G>A, XM_047445613.1:c.1592G>A, XM_047445614.1:c.1568G>A, NM_001410845.1:c.1568G>A, XR_007080682.1:n.1766G>A, XP_005264577.1:p.Arg569Gln, NP_003194.3:p.Arg561Gln, XP_011531376.1:p.Arg486Gln, NP_001188263.1:p.Arg392Gln, XP_047301571.1:p.Arg392Gln, XP_047301569.1:p.Arg531Gln, XP_047301570.1:p.Arg523Gln

Select item 147616291016.

rs1476162910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:75680295 (GRCh38)
2:75907421 (GRCh37)
Canonical SPDI:: NC_000002.12:75680294:C:T
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.75680295C>T, NC_000002.11:g.75907421C>T, XM_005264520.5:c.1734G>A, XM_005264520.4:c.1734G>A, XM_005264520.3:c.1734G>A, XM_005264520.2:c.1734G>A, XM_005264520.1:c.1734G>A, NM_003203.5:c.1710G>A, NM_003203.4:c.1710G>A, XM_011533074.4:c.1485G>A, XM_011533074.3:c.1485G>A, XM_011533074.2:c.1485G>A, XM_011533074.1:c.1485G>A, NM_001201334.2:c.1203G>A, NM_001201334.1:c.1203G>A, XM_047445615.1:c.1203G>A, XM_047445613.1:c.1620G>A, XM_047445614.1:c.1596G>A, NM_001410845.1:c.1596G>A, XP_005264577.1:p.Trp578Ter, NP_003194.3:p.Trp570Ter, XP_011531376.1:p.Trp495Ter, NP_001188263.1:p.Trp401Ter, XP_047301571.1:p.Trp401Ter, XP_047301569.1:p.Trp540Ter, XP_047301570.1:p.Trp532Ter

Select item 147600211617.

rs1476002116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:75710691 (GRCh38)
2:75937817 (GRCh37)
Canonical SPDI:: NC_000002.12:75710690:C:G
Gene:: GCFC2 (Varview), LOC105374813 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.75710691C>G, NC_000002.11:g.75937817C>G, XM_005264520.5:c.165G>C, XM_005264520.4:c.165G>C, XM_005264520.3:c.165G>C, XM_005264520.2:c.165G>C, XM_005264520.1:c.165G>C, NM_003203.5:c.165G>C, NM_003203.4:c.165G>C, XM_011533074.4:c.165G>C, XM_011533074.3:c.165G>C, XM_011533074.2:c.165G>C, XM_011533074.1:c.165G>C, XM_017004787.3:c.165G>C, XM_017004787.2:c.165G>C, XM_017004787.1:c.165G>C, XM_011533075.3:c.165G>C, XM_011533075.2:c.165G>C, XM_011533075.1:c.165G>C, NM_001201334.2:c.-490G>C, NM_001201335.2:c.165G>C, NM_001201335.1:c.165G>C, XM_047445613.1:c.165G>C, XM_047445614.1:c.165G>C, NM_001410845.1:c.165G>C, XR_007080682.1:n.225G>C

Select item 147516812718.

rs1475168127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:75690028 (GRCh38)
2:75917154 (GRCh37)
Canonical SPDI:: NC_000002.12:75690027:C:G,NC_000002.12:75690027:C:T
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (Korea1K)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.75690028C>G, NC_000002.12:g.75690028C>T, NC_000002.11:g.75917154C>G, NC_000002.11:g.75917154C>T, XM_005264520.5:c.1304G>C, XM_005264520.5:c.1304G>A, XM_005264520.4:c.1304G>C, XM_005264520.4:c.1304G>A, XM_005264520.3:c.1304G>C, XM_005264520.3:c.1304G>A, XM_005264520.2:c.1304G>C, XM_005264520.2:c.1304G>A, XM_005264520.1:c.1304G>C, XM_005264520.1:c.1304G>A, NM_003203.5:c.1280G>C, NM_003203.5:c.1280G>A, NM_003203.4:c.1280G>C, NM_003203.4:c.1280G>A, XM_011533074.4:c.1055G>C, XM_011533074.4:c.1055G>A, XM_011533074.3:c.1055G>C, XM_011533074.3:c.1055G>A, XM_011533074.2:c.1055G>C, XM_011533074.2:c.1055G>A, XM_011533074.1:c.1055G>C, XM_011533074.1:c.1055G>A, XM_017004787.3:c.*73G>C, XM_017004787.3:c.*73G>A, XM_017004787.2:c.*73G>C, XM_017004787.2:c.*73G>A, XM_017004787.1:c.*73G>C, XM_017004787.1:c.*73G>A, XM_011533075.3:c.*69G>C, XM_011533075.3:c.*69G>A, XM_011533075.2:c.*69G>C, XM_011533075.2:c.*69G>A, XM_011533075.1:c.*69G>C, XM_011533075.1:c.*69G>A, NM_001201334.2:c.773G>C, NM_001201334.2:c.773G>A, NM_001201334.1:c.773G>C, NM_001201334.1:c.773G>A, XM_047445615.1:c.773G>C, XM_047445615.1:c.773G>A, XM_047445613.1:c.1190G>C, XM_047445613.1:c.1190G>A, XM_047445614.1:c.1166G>C, XM_047445614.1:c.1166G>A, NM_001410845.1:c.1166G>C, NM_001410845.1:c.1166G>A, XR_007080682.1:n.1364G>C, XR_007080682.1:n.1364G>A, XP_005264577.1:p.Gly435Ala, XP_005264577.1:p.Gly435Glu, NP_003194.3:p.Gly427Ala, NP_003194.3:p.Gly427Glu, XP_011531376.1:p.Gly352Ala, XP_011531376.1:p.Gly352Glu, NP_001188263.1:p.Gly258Ala, NP_001188263.1:p.Gly258Glu, XP_047301571.1:p.Gly258Ala, XP_047301571.1:p.Gly258Glu, XP_047301569.1:p.Gly397Ala, XP_047301569.1:p.Gly397Glu, XP_047301570.1:p.Gly389Ala, XP_047301570.1:p.Gly389Glu

Select item 147509537519.

rs1475095375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:75710827 (GRCh38)
2:75937953 (GRCh37)
Canonical SPDI:: NC_000002.12:75710826:C:G
Gene:: GCFC2 (Varview), LOC105374813 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.75710827C>G, NC_000002.11:g.75937953C>G, XM_005264520.5:c.29G>C, XM_005264520.4:c.29G>C, XM_005264520.3:c.29G>C, XM_005264520.2:c.29G>C, XM_005264520.1:c.29G>C, NM_003203.5:c.29G>C, NM_003203.4:c.29G>C, XM_011533074.4:c.29G>C, XM_011533074.3:c.29G>C, XM_011533074.2:c.29G>C, XM_011533074.1:c.29G>C, XM_017004787.3:c.29G>C, XM_017004787.2:c.29G>C, XM_017004787.1:c.29G>C, XM_011533075.3:c.29G>C, XM_011533075.2:c.29G>C, XM_011533075.1:c.29G>C, NM_001201334.2:c.-626G>C, NM_001201335.2:c.29G>C, NM_001201335.1:c.29G>C, XM_047445613.1:c.29G>C, XM_047445614.1:c.29G>C, NM_001410845.1:c.29G>C, XR_007080682.1:n.89G>C, XR_007087116.1:n.53C>G, XP_005264577.1:p.Arg10Pro, NP_003194.3:p.Arg10Pro, XP_011531376.1:p.Arg10Pro, XP_016860276.1:p.Arg10Pro, XP_011531377.1:p.Arg10Pro, NP_001188264.1:p.Arg10Pro, XP_047301569.1:p.Arg10Pro, XP_047301570.1:p.Arg10Pro

Select item 147272709620.

rs1472727096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:75680193 (GRCh38)
2:75907319 (GRCh37)
Canonical SPDI:: NC_000002.12:75680192:C:T
Gene:: GCFC2 (Varview), LOC124906025 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.75680193C>T, NC_000002.11:g.75907319C>T, XM_005264520.5:c.1836G>A, XM_005264520.4:c.1836G>A, XM_005264520.3:c.1836G>A, XM_005264520.2:c.1836G>A, XM_005264520.1:c.1836G>A, NM_003203.5:c.1812G>A, NM_003203.4:c.1812G>A, XM_011533074.4:c.1587G>A, XM_011533074.3:c.1587G>A, XM_011533074.2:c.1587G>A, XM_011533074.1:c.1587G>A, NM_001201334.2:c.1305G>A, NM_001201334.1:c.1305G>A, XM_047445615.1:c.1305G>A, XM_047445613.1:c.1722G>A, XM_047445614.1:c.1698G>A, NM_001410845.1:c.1698G>A

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