Linked Data
ClinVar Variation Id:
223453
ClinVar RCV Id:
RCV000209608
dbSNP Id:
rs753483198
ExAC:
11:108173557 T / A
gnomAD v2:
11-108173557-T-A
gnomAD v4:
11-108302830-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302830T>A , CM000673.2:g.108302830T>A | GRCh38 |
| NC_000011.9:g.108173557T>A , CM000673.1:g.108173557T>A | GRCh37 |
| NC_000011.8:g.107678767T>A | NCBI36 |
| NG_009830.1:g.84999T>A , LRG_135:g.84999T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.5320-23T>A | ENSP00000388058.2:n.5320-23T>A | |
| ENST00000713593.1:c.*4791-23T>A | ENSP00000518889.1:n.*4791-23T>A | |
| ENST00000278616.9:c.5320-23T>A | ENSP00000278616.4:n.5320-23T>A | |
| ENST00000683174.1:n.6804-23T>A | ||
| ENST00000683524.1:n.544-23T>A | ||
| ENST00000684152.1:n.1034-23T>A | ||
| ENST00000527805.6:c.*384-23T>A | ENSP00000435747.2:n.*384-23T>A | |
| ENST00000675595.1:c.*384-23T>A | ENSP00000502563.1:n.*384-23T>A | |
| ENST00000675843.1:c.5320-23T>A MANE Select | ENSP00000501606.1:n.5320-23T>A | |
| ENST00000278616.8:c.5320-23T>A | ENSP00000278616.4:n.5320-23T>A | |
| ENST00000452508.6:c.5320-23T>A | ENSP00000388058.2:n.5320-23T>A | |
| ENST00000524792.5:n.1535-23T>A | ||
| ENST00000533690.5:n.724-23T>A | ||
| ENST00000534625.1:n.549-23T>A | ||
| NM_000051.3:c.5320-23T>A , LRG_135t1:c.5320-23T>A | NP_000042.3:n.5320-23T>A | |
| XM_005271561.3:c.5320-23T>A | XP_005271618.2:n.5320-23T>A | |
| XM_005271562.3:c.5320-23T>A | XP_005271619.2:n.5320-23T>A | |
| XM_006718843.2:c.5320-23T>A | XP_006718906.1:n.5320-23T>A | |
| XM_006718845.1:c.1276-23T>A | XP_006718908.1:n.1276-23T>A | |
| XM_011542840.1:c.5320-23T>A | XP_011541142.1:n.5320-23T>A | |
| XM_011542841.1:c.5320-23T>A | XP_011541143.1:n.5320-23T>A | |
| XM_011542842.1:c.5155-23T>A | XP_011541144.1:n.5155-23T>A | |
| XM_011542843.1:c.5320-23T>A | XP_011541145.1:n.5320-23T>A | |
| XM_011542844.1:c.4276-23T>A | XP_011541146.1:n.4276-23T>A | |
| XM_011542845.1:c.4012-23T>A | XP_011541147.1:n.4012-23T>A | |
| XM_011542846.1:c.5319-21T>A | XP_011541148.1:n.5319-21T>A | |
| XM_011542847.1:c.391-23T>A | XP_011541149.1:n.391-23T>A | |
| NM_001351834.1:c.5320-23T>A | NP_001338763.1:n.5320-23T>A | |
| XM_005271562.5:c.5320-23T>A | XP_005271619.2:n.5320-23T>A | |
| XM_006718843.4:c.5320-23T>A | XP_006718906.1:n.5320-23T>A | |
| XM_006718845.2:c.1276-23T>A | XP_006718908.1:n.1276-23T>A | |
| XM_011542840.3:c.5320-23T>A | XP_011541142.1:n.5320-23T>A | |
| XM_011542842.3:c.5155-23T>A | XP_011541144.1:n.5155-23T>A | |
| XM_011542843.2:c.5320-23T>A | XP_011541145.1:n.5320-23T>A | |
| XM_011542844.3:c.4276-23T>A | XP_011541146.1:n.4276-23T>A | |
| XM_011542845.2:c.4012-23T>A | XP_011541147.1:n.4012-23T>A | |
| XM_017017789.2:c.5320-23T>A | XP_016873278.1:n.5320-23T>A | |
| XM_017017790.2:c.5320-23T>A | XP_016873279.1:n.5320-23T>A | |
| XM_017017791.1:c.5320-23T>A | XP_016873280.1:n.5320-23T>A | |
| XM_017017792.2:c.*1-23T>A | XP_016873281.1:n.*1-23T>A | |
| XR_002957150.1:n.5920-23T>A | ||
| NM_001351834.2:c.5320-23T>A | NP_001338763.1:n.5320-23T>A | |
| NM_000051.4:c.5320-23T>A MANE Select | NP_000042.3:n.5320-23T>A |