Linked Data
ClinVar Variation Id:
379634
dbSNP Id:
rs200876654
gnomAD v2:
11-108172364-G-A
gnomAD v3:
11-108301637-G-A
gnomAD v4:
11-108301637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108301637G>A , CM000673.2:g.108301637G>A | GRCh38 |
| NC_000011.9:g.108172364G>A , CM000673.1:g.108172364G>A | GRCh37 |
| NC_000011.8:g.107677574G>A | NCBI36 |
| NG_009830.1:g.83806G>A , LRG_135:g.83806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5178-11G>A | ENSP00000388058.2:n.5178-11G>A | |
| ENST00000713593.1:c.*4649-11G>A | ENSP00000518889.1:n.*4649-11G>A | |
| ENST00000278616.9:c.5178-11G>A | ENSP00000278616.4:n.5178-11G>A | |
| ENST00000683174.1:n.6662-11G>A | ||
| ENST00000683524.1:n.402-11G>A | ||
| ENST00000684152.1:n.892-11G>A | ||
| ENST00000527805.6:c.*242-11G>A | ENSP00000435747.2:n.*242-11G>A | |
| ENST00000675595.1:c.*242-11G>A | ENSP00000502563.1:n.*242-11G>A | |
| ENST00000675843.1:c.5178-11G>A MANE Select | ENSP00000501606.1:n.5178-11G>A | |
| ENST00000278616.8:c.5178-11G>A | ENSP00000278616.4:n.5178-11G>A | |
| ENST00000452508.6:c.5178-11G>A | ENSP00000388058.2:n.5178-11G>A | |
| ENST00000524792.5:n.1393-11G>A | ||
| ENST00000533690.5:n.582-11G>A | ||
| ENST00000534625.1:n.407-11G>A | ||
| NM_000051.3:c.5178-11G>A , LRG_135t1:c.5178-11G>A | NP_000042.3:n.5178-11G>A | |
| XM_005271561.3:c.5178-11G>A | XP_005271618.2:n.5178-11G>A | |
| XM_005271562.3:c.5178-11G>A | XP_005271619.2:n.5178-11G>A | |
| XM_006718843.2:c.5178-11G>A | XP_006718906.1:n.5178-11G>A | |
| XM_006718845.1:c.1134-11G>A | XP_006718908.1:n.1134-11G>A | |
| XM_011542840.1:c.5178-11G>A | XP_011541142.1:n.5178-11G>A | |
| XM_011542841.1:c.5178-11G>A | XP_011541143.1:n.5178-11G>A | |
| XM_011542842.1:c.5013-11G>A | XP_011541144.1:n.5013-11G>A | |
| XM_011542843.1:c.5178-11G>A | XP_011541145.1:n.5178-11G>A | |
| XM_011542844.1:c.4134-11G>A | XP_011541146.1:n.4134-11G>A | |
| XM_011542845.1:c.3870-11G>A | XP_011541147.1:n.3870-11G>A | |
| XM_011542846.1:c.5178-11G>A | XP_011541148.1:n.5178-11G>A | |
| XM_011542847.1:c.249-11G>A | XP_011541149.1:n.249-11G>A | |
| NM_001351834.1:c.5178-11G>A | NP_001338763.1:n.5178-11G>A | |
| XM_005271562.5:c.5178-11G>A | XP_005271619.2:n.5178-11G>A | |
| XM_006718843.4:c.5178-11G>A | XP_006718906.1:n.5178-11G>A | |
| XM_006718845.2:c.1134-11G>A | XP_006718908.1:n.1134-11G>A | |
| XM_011542840.3:c.5178-11G>A | XP_011541142.1:n.5178-11G>A | |
| XM_011542842.3:c.5013-11G>A | XP_011541144.1:n.5013-11G>A | |
| XM_011542843.2:c.5178-11G>A | XP_011541145.1:n.5178-11G>A | |
| XM_011542844.3:c.4134-11G>A | XP_011541146.1:n.4134-11G>A | |
| XM_011542845.2:c.3870-11G>A | XP_011541147.1:n.3870-11G>A | |
| XM_017017789.2:c.5178-11G>A | XP_016873278.1:n.5178-11G>A | |
| XM_017017790.2:c.5178-11G>A | XP_016873279.1:n.5178-11G>A | |
| XM_017017791.1:c.5178-11G>A | XP_016873280.1:n.5178-11G>A | |
| XM_017017792.2:c.5178-11G>A | XP_016873281.1:n.5178-11G>A | |
| XR_002957150.1:n.5778-11G>A | ||
| NM_001351834.2:c.5178-11G>A | NP_001338763.1:n.5178-11G>A | |
| NM_000051.4:c.5178-11G>A MANE Select | NP_000042.3:n.5178-11G>A |