Linked Data
ClinVar Variation Id:
127332
ClinVar RCV Id:
RCV000119195
RCV000120171
RCV000115136
RCV000590142
RCV001356635
RCV004549538
RCV001798307
dbSNP Id:
rs56128736
ExAC:
11:108119823 T / C
gnomAD v2:
11-108119823-T-C
gnomAD v3:
11-108249096-T-C
gnomAD v4:
11-108249096-T-C
COSMIC:
COSM21825
PubMed:
PMID:12697903
PMID:12810666
PMID:16631465
PMID:17023046
PMID:17393301
PMID:17623063
PMID:17640065
PMID:19781682
PMID:20305132
PMID:21933854
PMID:22369572
PMID:22529920
PMID:23091097
PMID:23555315
PMID:24416720
PMID:24728327
PMID:25148578
PMID:25257301
PMID:25523272
PMID:25587027
PMID:26009992
PMID:26123645
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108249096T>C , CM000673.2:g.108249096T>C | GRCh38 |
| NC_000011.9:g.108119823T>C , CM000673.1:g.108119823T>C | GRCh37 |
| NC_000011.8:g.107625033T>C | NCBI36 |
| NG_009830.1:g.31265T>C , LRG_135:g.31265T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.1229T>C | ENSP00000388058.2:p.Val410Ala | |
| ENST00000713593.1:c.*700T>C | ENSP00000518889.1:n.*700T>C | |
| ENST00000278616.9:c.1229T>C | ENSP00000278616.4:p.Val410Ala | |
| ENST00000682516.1:n.1363T>C | ||
| ENST00000682956.1:n.1363T>C | ||
| ENST00000683174.1:n.1379T>C | ||
| ENST00000683605.1:n.724T>C | ||
| ENST00000684037.1:c.*164T>C | ENSP00000508245.1:n.*164T>C | |
| ENST00000684061.1:n.1363T>C | ||
| ENST00000684179.1:n.1198T>C | ||
| ENST00000527805.6:c.1229T>C | ENSP00000435747.2:p.Val410Ala | |
| ENST00000675595.1:c.1064T>C | ENSP00000502563.1:p.Val355Ala | |
| ENST00000675843.1:c.1229T>C MANE Select | ENSP00000501606.1:p.Val410Ala | |
| ENST00000278616.8:c.1229T>C | ENSP00000278616.4:p.Val410Ala | |
| ENST00000452508.6:c.1229T>C | ENSP00000388058.2:p.Val410Ala | |
| ENST00000527805.5:c.1229T>C | ENSP00000435747.1:p.Val410Ala | |
| NM_000051.3:c.1229T>C , LRG_135t1:c.1229T>C | NP_000042.3:p.Val410Ala | |
| XM_005271561.3:c.1229T>C | XP_005271618.2:p.Val410Ala | |
| XM_005271562.3:c.1229T>C | XP_005271619.2:p.Val410Ala | |
| XM_006718843.2:c.1229T>C | XP_006718906.1:p.Val410Ala | |
| XM_011542840.1:c.1229T>C | XP_011541142.1:p.Val410Ala | |
| XM_011542841.1:c.1229T>C | XP_011541143.1:p.Val410Ala | |
| XM_011542842.1:c.1064T>C | XP_011541144.1:p.Val355Ala | |
| XM_011542843.1:c.1229T>C | XP_011541145.1:p.Val410Ala | |
| XM_011542844.1:c.185T>C | XP_011541146.1:p.Val62Ala | |
| XM_011542845.1:c.-73-1605T>C | XP_011541147.1:n.-73-1605T>C | |
| XM_011542846.1:c.1229T>C | XP_011541148.1:p.Val410Ala | |
| NM_001351834.1:c.1229T>C | NP_001338763.1:p.Val410Ala | |
| XM_005271562.5:c.1229T>C | XP_005271619.2:p.Val410Ala | |
| XM_006718843.4:c.1229T>C | XP_006718906.1:p.Val410Ala | |
| XM_011542840.3:c.1229T>C | XP_011541142.1:p.Val410Ala | |
| XM_011542842.3:c.1064T>C | XP_011541144.1:p.Val355Ala | |
| XM_011542843.2:c.1229T>C | XP_011541145.1:p.Val410Ala | |
| XM_011542844.3:c.185T>C | XP_011541146.1:p.Val62Ala | |
| XM_011542845.2:c.-73-1605T>C | XP_011541147.1:n.-73-1605T>C | |
| XM_017017789.2:c.1229T>C | XP_016873278.1:p.Val410Ala | |
| XM_017017790.2:c.1229T>C | XP_016873279.1:p.Val410Ala | |
| XM_017017791.1:c.1229T>C | XP_016873280.1:p.Val410Ala | |
| XM_017017792.2:c.1229T>C | XP_016873281.1:p.Val410Ala | |
| XR_002957150.1:n.1962T>C | ||
| NM_001351834.2:c.1229T>C | NP_001338763.1:p.Val410Ala | |
| NM_000051.4:c.1229T>C MANE Select | NP_000042.3:p.Val410Ala |