SNP Links for Protein (Select 578808065) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1338833 (GRCh38)
4:1332621 (GRCh37)
Canonical SPDI:: NC_000004.12:1338832:C:T
Gene:: MAEA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.1338833C>T, NC_000004.11:g.1332621C>T, XM_006713850.3:c.1308C>T, XM_006713850.2:c.1308C>T, XM_006713850.1:c.1308C>T, XM_006713849.3:c.1311C>T, XM_006713849.2:c.1311C>T, XM_006713849.1:c.1311C>T, XM_047449493.1:c.1167C>T

Select item 14668897258.

rs1466889725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:1338705 (GRCh38)
4:1332493 (GRCh37)
Canonical SPDI:: NC_000004.12:1338704:C:G
Gene:: MAEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.1338705C>G, NC_000004.11:g.1332493C>G, XM_006713850.3:c.1180C>G, XM_006713850.2:c.1180C>G, XM_006713850.1:c.1180C>G, XM_006713849.3:c.1183C>G, XM_006713849.2:c.1183C>G, XM_006713849.1:c.1183C>G, XM_047449493.1:c.1039C>G, XP_006713913.1:p.Leu394Val, XP_006713912.1:p.Leu395Val, XP_047305449.1:p.Leu347Val

Select item 14653175689.

rs1465317568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1338686 (GRCh38)
4:1332474 (GRCh37)
Canonical SPDI:: NC_000004.12:1338685:G:A
Gene:: MAEA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.1338686G>A, NC_000004.11:g.1332474G>A, XM_006713850.3:c.1161G>A, XM_006713850.2:c.1161G>A, XM_006713850.1:c.1161G>A, XM_006713849.3:c.1164G>A, XM_006713849.2:c.1164G>A, XM_006713849.1:c.1164G>A, XM_047449493.1:c.1020G>A

Select item 146493088410.

rs1464930884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1336956 (GRCh38)
4:1330744 (GRCh37)
Canonical SPDI:: NC_000004.12:1336955:C:T
Gene:: MAEA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000004.12:g.1336956C>T, NC_000004.11:g.1330744C>T, NM_005882.5:c.738C>T, NM_005882.4:c.738C>T, NM_005882.3:c.738C>T, NM_001017405.3:c.861C>T, NM_001017405.2:c.861C>T, NM_001017405.1:c.861C>T, XM_006713850.3:c.858C>T, XM_006713850.2:c.858C>T, XM_006713850.1:c.858C>T, XM_006713849.3:c.861C>T, XM_006713849.2:c.861C>T, XM_006713849.1:c.861C>T, NM_001297432.2:c.858C>T, NM_001297432.1:c.858C>T, NM_001297433.2:c.717C>T, NM_001297433.1:c.717C>T, NR_123716.2:n.684C>T, NR_123716.1:n.724C>T, NM_001297431.2:c.661C>T, NM_001297431.1:c.661C>T, NM_001297430.2:c.657C>T, NM_001297430.1:c.657C>T, XM_047449493.1:c.717C>T, XM_047449494.1:c.784C>T, NP_001284360.1:p.Pro221Ser, XP_047305450.1:p.Pro262Ser

Select item 146356432311.

rs1463564323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1332810 (GRCh38)
4:1326598 (GRCh37)
Canonical SPDI:: NC_000004.12:1332809:G:A
Gene:: MAEA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1332810G>A, NC_000004.11:g.1326598G>A, NM_005882.5:c.587G>A, NM_005882.4:c.587G>A, NM_005882.3:c.587G>A, NM_001017405.3:c.710G>A, NM_001017405.2:c.710G>A, NM_001017405.1:c.710G>A, XM_006713850.3:c.707G>A, XM_006713850.2:c.707G>A, XM_006713850.1:c.707G>A, XM_006713849.3:c.710G>A, XM_006713849.2:c.710G>A, XM_006713849.1:c.710G>A, NM_001297432.2:c.707G>A, NM_001297432.1:c.707G>A, NM_001297433.2:c.566G>A, NM_001297433.1:c.566G>A, NR_123716.2:n.533G>A, NR_123716.1:n.573G>A, NM_001297431.2:c.510G>A, NM_001297431.1:c.510G>A, NM_001297430.2:c.506G>A, NM_001297430.1:c.506G>A, XM_047449493.1:c.566G>A, XM_047449494.1:c.633G>A, NP_005873.2:p.Arg196His, NP_001017405.1:p.Arg237His, XP_006713913.1:p.Arg236His, XP_006713912.1:p.Arg237His, NP_001284361.1:p.Arg236His, NP_001284362.1:p.Arg189His, NP_001284359.1:p.Arg169His, XP_047305449.1:p.Arg189His

Select item 145480517112.

rs1454805171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:1336962 (GRCh38)
4:1330750 (GRCh37)
Canonical SPDI:: NC_000004.12:1336961:C:G,NC_000004.12:1336961:C:T
Gene:: MAEA (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1336962C>G, NC_000004.12:g.1336962C>T, NC_000004.11:g.1330750C>G, NC_000004.11:g.1330750C>T, NM_005882.5:c.744C>G, NM_005882.5:c.744C>T, NM_005882.4:c.744C>G, NM_005882.4:c.744C>T, NM_005882.3:c.744C>G, NM_005882.3:c.744C>T, NM_001017405.3:c.867C>G, NM_001017405.3:c.867C>T, NM_001017405.2:c.867C>G, NM_001017405.2:c.867C>T, NM_001017405.1:c.867C>G, NM_001017405.1:c.867C>T, XM_006713850.3:c.864C>G, XM_006713850.3:c.864C>T, XM_006713850.2:c.864C>G, XM_006713850.2:c.864C>T, XM_006713850.1:c.864C>G, XM_006713850.1:c.864C>T, XM_006713849.3:c.867C>G, XM_006713849.3:c.867C>T, XM_006713849.2:c.867C>G, XM_006713849.2:c.867C>T, XM_006713849.1:c.867C>G, XM_006713849.1:c.867C>T, NM_001297432.2:c.864C>G, NM_001297432.2:c.864C>T, NM_001297432.1:c.864C>G, NM_001297432.1:c.864C>T, NM_001297433.2:c.723C>G, NM_001297433.2:c.723C>T, NM_001297433.1:c.723C>G, NM_001297433.1:c.723C>T, NR_123716.2:n.690C>G, NR_123716.2:n.690C>T, NR_123716.1:n.730C>G, NR_123716.1:n.730C>T, NM_001297431.2:c.667C>G, NM_001297431.2:c.667C>T, NM_001297431.1:c.667C>G, NM_001297431.1:c.667C>T, NM_001297430.2:c.663C>G, NM_001297430.2:c.663C>T, NM_001297430.1:c.663C>G, NM_001297430.1:c.663C>T, XM_047449493.1:c.723C>G, XM_047449493.1:c.723C>T, XM_047449494.1:c.790C>G, XM_047449494.1:c.790C>T, NP_001284360.1:p.Pro223Ala, NP_001284360.1:p.Pro223Ser, XP_047305450.1:p.Pro264Ala, XP_047305450.1:p.Pro264Ser

Select item 145294851013.

rs1452948510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1338577 (GRCh38)
4:1332365 (GRCh37)
Canonical SPDI:: NC_000004.12:1338576:C:T
Gene:: MAEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000032/8 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000004.12:g.1338577C>T, NC_000004.11:g.1332365C>T, NM_005882.5:c.932C>T, NM_005882.4:c.932C>T, NM_005882.3:c.932C>T, NM_001017405.3:c.1055C>T, NM_001017405.2:c.1055C>T, NM_001017405.1:c.1055C>T, XM_006713850.3:c.1052C>T, XM_006713850.2:c.1052C>T, XM_006713850.1:c.1052C>T, XM_006713849.3:c.1055C>T, XM_006713849.2:c.1055C>T, XM_006713849.1:c.1055C>T, NM_001297432.2:c.1052C>T, NM_001297432.1:c.1052C>T, NM_001297433.2:c.911C>T, NM_001297433.1:c.911C>T, NR_123716.2:n.878C>T, NR_123716.1:n.918C>T, NM_001297431.2:c.851C>T, NM_001297431.1:c.851C>T, NM_001297430.2:c.851C>T, NM_001297430.1:c.851C>T, XM_047449493.1:c.911C>T, XM_047449494.1:c.*117C>T, NP_005873.2:p.Pro311Leu, NP_001017405.1:p.Pro352Leu, XP_006713913.1:p.Pro351Leu, XP_006713912.1:p.Pro352Leu, NP_001284361.1:p.Pro351Leu, NP_001284362.1:p.Pro304Leu, NP_001284360.1:p.Pro284Leu, NP_001284359.1:p.Pro284Leu, XP_047305449.1:p.Pro304Leu

Select item 145136433514.

rs1451364335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1312155 (GRCh38)
4:1305943 (GRCh37)
Canonical SPDI:: NC_000004.12:1312154:G:A
Gene:: MAEA (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1312155G>A, NC_000004.11:g.1305943G>A, NM_005882.5:c.246G>A, NM_005882.4:c.246G>A, NM_005882.3:c.246G>A, NM_001017405.3:c.246G>A, NM_001017405.2:c.246G>A, NM_001017405.1:c.246G>A, XM_006713850.3:c.243G>A, XM_006713850.2:c.243G>A, XM_006713850.1:c.243G>A, XM_006713849.3:c.246G>A, XM_006713849.2:c.246G>A, XM_006713849.1:c.246G>A, NM_001297432.2:c.243G>A, NM_001297432.1:c.243G>A, NM_001297433.2:c.102G>A, NM_001297433.1:c.102G>A, NR_123716.2:n.269G>A, NR_123716.1:n.309G>A, NM_001297431.2:c.246G>A, NM_001297431.1:c.246G>A, NM_001297430.2:c.246G>A, NM_001297430.1:c.246G>A, XM_047449495.1:c.246G>A, XM_047449493.1:c.102G>A, XM_047449494.1:c.246G>A

Select item 145081939715.

rs1450819397 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1315496 (GRCh38)
4:1309284 (GRCh37)
Canonical SPDI:: NC_000004.12:1315495:A:G
Gene:: MAEA (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1315496A>G, NC_000004.11:g.1309284A>G, NM_005882.5:c.352A>G, NM_005882.4:c.352A>G, NM_005882.3:c.352A>G, NM_001017405.3:c.352A>G, NM_001017405.2:c.352A>G, NM_001017405.1:c.352A>G, XM_006713850.3:c.349A>G, XM_006713850.2:c.349A>G, XM_006713850.1:c.349A>G, XM_006713849.3:c.352A>G, XM_006713849.2:c.352A>G, XM_006713849.1:c.352A>G, NM_001297432.2:c.349A>G, NM_001297432.1:c.349A>G, NM_001297433.2:c.208A>G, NM_001297433.1:c.208A>G, NR_123716.2:n.375A>G, NR_123716.1:n.415A>G, NM_001297431.2:c.352A>G, NM_001297431.1:c.352A>G, XM_047449495.1:c.352A>G, XM_047449493.1:c.208A>G, XM_047449494.1:c.352A>G, NP_005873.2:p.Ser118Gly, NP_001017405.1:p.Ser118Gly, XP_006713913.1:p.Ser117Gly, XP_006713912.1:p.Ser118Gly, NP_001284361.1:p.Ser117Gly, NP_001284362.1:p.Ser70Gly, NP_001284360.1:p.Ser118Gly, XP_047305451.1:p.Ser118Gly, XP_047305449.1:p.Ser70Gly, XP_047305450.1:p.Ser118Gly

Select item 145056899116.

rs1450568991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1309656 (GRCh38)
4:1303444 (GRCh37)
Canonical SPDI:: NC_000004.12:1309655:C:T
Gene:: MAEA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1309656C>T, NC_000004.11:g.1303444C>T, XM_006713850.3:c.10C>T, XM_006713850.2:c.10C>T, XM_006713850.1:c.10C>T, NM_001297432.2:c.10C>T, NM_001297432.1:c.10C>T

Select item 144970028517.

rs1449700285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1327676 (GRCh38)
4:1321464 (GRCh37)
Canonical SPDI:: NC_000004.12:1327675:G:A
Gene:: MAEA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1327676G>A, NC_000004.11:g.1321464G>A, NM_005882.5:c.506G>A, NM_005882.4:c.506G>A, NM_005882.3:c.506G>A, NM_001017405.3:c.629G>A, NM_001017405.2:c.629G>A, NM_001017405.1:c.629G>A, XM_006713850.3:c.626G>A, XM_006713850.2:c.626G>A, XM_006713850.1:c.626G>A, XM_006713849.3:c.629G>A, XM_006713849.2:c.629G>A, XM_006713849.1:c.629G>A, NM_001297432.2:c.626G>A, NM_001297432.1:c.626G>A, NM_001297433.2:c.485G>A, NM_001297433.1:c.485G>A, NM_001297430.2:c.425G>A, NM_001297430.1:c.425G>A, XM_047449495.1:c.629G>A, XM_047449493.1:c.485G>A, NP_005873.2:p.Arg169Gln, NP_001017405.1:p.Arg210Gln, XP_006713913.1:p.Arg209Gln, XP_006713912.1:p.Arg210Gln, NP_001284361.1:p.Arg209Gln, NP_001284362.1:p.Arg162Gln, NP_001284359.1:p.Arg142Gln, XP_047305451.1:p.Arg210Gln, XP_047305449.1:p.Arg162Gln

Select item 144949479418.

rs1449494794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:1315481 (GRCh38)
4:1309269 (GRCh37)
Canonical SPDI:: NC_000004.12:1315480:C:A,NC_000004.12:1315480:C:T
Gene:: MAEA (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1315481C>A, NC_000004.12:g.1315481C>T, NC_000004.11:g.1309269C>A, NC_000004.11:g.1309269C>T, NM_005882.5:c.337C>A, NM_005882.5:c.337C>T, NM_005882.4:c.337C>A, NM_005882.4:c.337C>T, NM_005882.3:c.337C>A, NM_005882.3:c.337C>T, NM_001017405.3:c.337C>A, NM_001017405.3:c.337C>T, NM_001017405.2:c.337C>A, NM_001017405.2:c.337C>T, NM_001017405.1:c.337C>A, NM_001017405.1:c.337C>T, XM_006713850.3:c.334C>A, XM_006713850.3:c.334C>T, XM_006713850.2:c.334C>A, XM_006713850.2:c.334C>T, XM_006713850.1:c.334C>A, XM_006713850.1:c.334C>T, XM_006713849.3:c.337C>A, XM_006713849.3:c.337C>T, XM_006713849.2:c.337C>A, XM_006713849.2:c.337C>T, XM_006713849.1:c.337C>A, XM_006713849.1:c.337C>T, NM_001297432.2:c.334C>A, NM_001297432.2:c.334C>T, NM_001297432.1:c.334C>A, NM_001297432.1:c.334C>T, NM_001297433.2:c.193C>A, NM_001297433.2:c.193C>T, NM_001297433.1:c.193C>A, NM_001297433.1:c.193C>T, NR_123716.2:n.360C>A, NR_123716.2:n.360C>T, NR_123716.1:n.400C>A, NR_123716.1:n.400C>T, NM_001297431.2:c.337C>A, NM_001297431.2:c.337C>T, NM_001297431.1:c.337C>A, NM_001297431.1:c.337C>T, XM_047449495.1:c.337C>A, XM_047449495.1:c.337C>T, XM_047449493.1:c.193C>A, XM_047449493.1:c.193C>T, XM_047449494.1:c.337C>A, XM_047449494.1:c.337C>T, NP_005873.2:p.Gln113Lys, NP_005873.2:p.Gln113Ter, NP_001017405.1:p.Gln113Lys, NP_001017405.1:p.Gln113Ter, XP_006713913.1:p.Gln112Lys, XP_006713913.1:p.Gln112Ter, XP_006713912.1:p.Gln113Lys, XP_006713912.1:p.Gln113Ter, NP_001284361.1:p.Gln112Lys, NP_001284361.1:p.Gln112Ter, NP_001284362.1:p.Gln65Lys, NP_001284362.1:p.Gln65Ter, NP_001284360.1:p.Gln113Lys, NP_001284360.1:p.Gln113Ter, XP_047305451.1:p.Gln113Lys, XP_047305451.1:p.Gln113Ter, XP_047305449.1:p.Gln65Lys, XP_047305449.1:p.Gln65Ter, XP_047305450.1:p.Gln113Lys, XP_047305450.1:p.Gln113Ter

Select item 144817934019.

rs1448179340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:1338513 (GRCh38)
4:1332301 (GRCh37)
Canonical SPDI:: NC_000004.12:1338512:G:T
Gene:: MAEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.1338513G>T, NC_000004.11:g.1332301G>T, NM_005882.5:c.868G>T, NM_005882.4:c.868G>T, NM_005882.3:c.868G>T, NM_001017405.3:c.991G>T, NM_001017405.2:c.991G>T, NM_001017405.1:c.991G>T, XM_006713850.3:c.988G>T, XM_006713850.2:c.988G>T, XM_006713850.1:c.988G>T, XM_006713849.3:c.991G>T, XM_006713849.2:c.991G>T, XM_006713849.1:c.991G>T, NM_001297432.2:c.988G>T, NM_001297432.1:c.988G>T, NM_001297433.2:c.847G>T, NM_001297433.1:c.847G>T, NR_123716.2:n.814G>T, NR_123716.1:n.854G>T, NM_001297431.2:c.787G>T, NM_001297431.1:c.787G>T, NM_001297430.2:c.787G>T, NM_001297430.1:c.787G>T, XM_047449493.1:c.847G>T, XM_047449494.1:c.*53G>T, NP_005873.2:p.Ala290Ser, NP_001017405.1:p.Ala331Ser, XP_006713913.1:p.Ala330Ser, XP_006713912.1:p.Ala331Ser, NP_001284361.1:p.Ala330Ser, NP_001284362.1:p.Ala283Ser, NP_001284360.1:p.Ala263Ser, NP_001284359.1:p.Ala263Ser, XP_047305449.1:p.Ala283Ser

Select item 144611262220.

rs1446112622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:1336908 (GRCh38)
4:1330696 (GRCh37)
Canonical SPDI:: NC_000004.12:1336907:G:C
Gene:: MAEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1336908G>C, NC_000004.11:g.1330696G>C, NM_005882.5:c.690G>C, NM_005882.4:c.690G>C, NM_005882.3:c.690G>C, NM_001017405.3:c.813G>C, NM_001017405.2:c.813G>C, NM_001017405.1:c.813G>C, XM_006713850.3:c.810G>C, XM_006713850.2:c.810G>C, XM_006713850.1:c.810G>C, XM_006713849.3:c.813G>C, XM_006713849.2:c.813G>C, XM_006713849.1:c.813G>C, NM_001297432.2:c.810G>C, NM_001297432.1:c.810G>C, NM_001297433.2:c.669G>C, NM_001297433.1:c.669G>C, NR_123716.2:n.636G>C, NR_123716.1:n.676G>C, NM_001297431.2:c.613G>C, NM_001297431.1:c.613G>C, NM_001297430.2:c.609G>C, NM_001297430.1:c.609G>C, XM_047449493.1:c.669G>C, XM_047449494.1:c.736G>C, NP_001284360.1:p.Val205Leu, XP_047305450.1:p.Val246Leu

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 453

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