Linked Data
ClinVar Variation Id:
127379
ClinVar RCV Id:
RCV000168271
RCV000115184
RCV000193232
RCV000656759
RCV001354169
RCV004549549
RCV003492456
dbSNP Id:
rs145119475
ExAC:
11:108158393 C / A
gnomAD v2:
11-108158393-C-A
gnomAD v3:
11-108287666-C-A
gnomAD v4:
11-108287666-C-A
PubMed:
PMID:19781682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108287666C>A , CM000673.2:g.108287666C>A | GRCh38 |
| NC_000011.9:g.108158393C>A , CM000673.1:g.108158393C>A | GRCh37 |
| NC_000011.8:g.107663603C>A | NCBI36 |
| NG_009830.1:g.69835C>A , LRG_135:g.69835C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.4060C>A | ENSP00000388058.2:p.Pro1354Thr | |
| ENST00000713593.1:c.*3531C>A | ENSP00000518889.1:n.*3531C>A | |
| ENST00000278616.9:c.4060C>A | ENSP00000278616.4:p.Pro1354Thr | |
| ENST00000533733.6:n.1323C>A | ||
| ENST00000683174.1:n.4210C>A | ||
| ENST00000527805.6:c.4060C>A | ENSP00000435747.2:p.Pro1354Thr | |
| ENST00000675595.1:c.3895C>A | ENSP00000502563.1:p.Pro1299Thr | |
| ENST00000675843.1:c.4060C>A MANE Select | ENSP00000501606.1:p.Pro1354Thr | |
| ENST00000278616.8:c.4060C>A | ENSP00000278616.4:p.Pro1354Thr | |
| ENST00000452508.6:c.4060C>A | ENSP00000388058.2:p.Pro1354Thr | |
| ENST00000524792.5:n.275C>A | ||
| ENST00000527805.5:c.4060C>A | ENSP00000435747.1:p.Pro1354Thr | |
| ENST00000531525.2:c.67C>A | ENSP00000434327.2:p.Pro23Thr | |
| ENST00000533733.5:n.489C>A | ||
| NM_000051.3:c.4060C>A , LRG_135t1:c.4060C>A | NP_000042.3:p.Pro1354Thr | |
| XM_005271561.3:c.4060C>A | XP_005271618.2:p.Pro1354Thr | |
| XM_005271562.3:c.4060C>A | XP_005271619.2:p.Pro1354Thr | |
| XM_006718843.2:c.4060C>A | XP_006718906.1:p.Pro1354Thr | |
| XM_006718845.1:c.16C>A | XP_006718908.1:p.Pro6Thr | |
| XM_011542840.1:c.4060C>A | XP_011541142.1:p.Pro1354Thr | |
| XM_011542841.1:c.4060C>A | XP_011541143.1:p.Pro1354Thr | |
| XM_011542842.1:c.3895C>A | XP_011541144.1:p.Pro1299Thr | |
| XM_011542843.1:c.4060C>A | XP_011541145.1:p.Pro1354Thr | |
| XM_011542844.1:c.3016C>A | XP_011541146.1:p.Pro1006Thr | |
| XM_011542845.1:c.2752C>A | XP_011541147.1:p.Pro918Thr | |
| XM_011542846.1:c.4060C>A | XP_011541148.1:p.Pro1354Thr | |
| NM_001351834.1:c.4060C>A | NP_001338763.1:p.Pro1354Thr | |
| XM_005271562.5:c.4060C>A | XP_005271619.2:p.Pro1354Thr | |
| XM_006718843.4:c.4060C>A | XP_006718906.1:p.Pro1354Thr | |
| XM_006718845.2:c.16C>A | XP_006718908.1:p.Pro6Thr | |
| XM_011542840.3:c.4060C>A | XP_011541142.1:p.Pro1354Thr | |
| XM_011542842.3:c.3895C>A | XP_011541144.1:p.Pro1299Thr | |
| XM_011542843.2:c.4060C>A | XP_011541145.1:p.Pro1354Thr | |
| XM_011542844.3:c.3016C>A | XP_011541146.1:p.Pro1006Thr | |
| XM_011542845.2:c.2752C>A | XP_011541147.1:p.Pro918Thr | |
| XM_017017789.2:c.4060C>A | XP_016873278.1:p.Pro1354Thr | |
| XM_017017790.2:c.4060C>A | XP_016873279.1:p.Pro1354Thr | |
| XM_017017791.1:c.4060C>A | XP_016873280.1:p.Pro1354Thr | |
| XM_017017792.2:c.4060C>A | XP_016873281.1:p.Pro1354Thr | |
| XR_002957150.1:n.4793C>A | ||
| NM_001351834.2:c.4060C>A | NP_001338763.1:p.Pro1354Thr | |
| NM_000051.4:c.4060C>A MANE Select | NP_000042.3:p.Pro1354Thr |