Linked Data
ClinVar Variation Id:
453551
dbSNP Id:
rs1204604787
gnomAD v3:
11-108297390-A-G
gnomAD v4:
11-108297390-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108297390A>G , CM000673.2:g.108297390A>G | GRCh38 |
| NC_000011.9:g.108168117A>G , CM000673.1:g.108168117A>G | GRCh37 |
| NC_000011.8:g.107673327A>G | NCBI36 |
| NG_009830.1:g.79559A>G , LRG_135:g.79559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5005+8A>G | ENSP00000388058.2:n.5005+8A>G | |
| ENST00000713593.1:c.*4476+8A>G | ENSP00000518889.1:n.*4476+8A>G | |
| ENST00000278616.9:c.5005+8A>G | ENSP00000278616.4:n.5005+8A>G | |
| ENST00000683174.1:n.6489+8A>G | ||
| ENST00000683524.1:n.229+8A>G | ||
| ENST00000684152.1:n.719+8A>G | ||
| ENST00000527805.6:c.*69+8A>G | ENSP00000435747.2:n.*69+8A>G | |
| ENST00000675595.1:c.*69+8A>G | ENSP00000502563.1:n.*69+8A>G | |
| ENST00000675843.1:c.5005+8A>G MANE Select | ENSP00000501606.1:n.5005+8A>G | |
| ENST00000278616.8:c.5005+8A>G | ENSP00000278616.4:n.5005+8A>G | |
| ENST00000452508.6:c.5005+8A>G | ENSP00000388058.2:n.5005+8A>G | |
| ENST00000524792.5:n.1220+8A>G | ||
| ENST00000533690.5:n.409+8A>G | ||
| NM_000051.3:c.5005+8A>G , LRG_135t1:c.5005+8A>G | NP_000042.3:n.5005+8A>G | |
| XM_005271561.3:c.5005+8A>G | XP_005271618.2:n.5005+8A>G | |
| XM_005271562.3:c.5005+8A>G | XP_005271619.2:n.5005+8A>G | |
| XM_006718843.2:c.5005+8A>G | XP_006718906.1:n.5005+8A>G | |
| XM_006718845.1:c.961+8A>G | XP_006718908.1:n.961+8A>G | |
| XM_011542840.1:c.5005+8A>G | XP_011541142.1:n.5005+8A>G | |
| XM_011542841.1:c.5005+8A>G | XP_011541143.1:n.5005+8A>G | |
| XM_011542842.1:c.4840+8A>G | XP_011541144.1:n.4840+8A>G | |
| XM_011542843.1:c.5005+8A>G | XP_011541145.1:n.5005+8A>G | |
| XM_011542844.1:c.3961+8A>G | XP_011541146.1:n.3961+8A>G | |
| XM_011542845.1:c.3697+8A>G | XP_011541147.1:n.3697+8A>G | |
| XM_011542846.1:c.5005+8A>G | XP_011541148.1:n.5005+8A>G | |
| XM_011542847.1:c.76+8A>G | XP_011541149.1:n.76+8A>G | |
| NM_001351834.1:c.5005+8A>G | NP_001338763.1:n.5005+8A>G | |
| XM_005271562.5:c.5005+8A>G | XP_005271619.2:n.5005+8A>G | |
| XM_006718843.4:c.5005+8A>G | XP_006718906.1:n.5005+8A>G | |
| XM_006718845.2:c.961+8A>G | XP_006718908.1:n.961+8A>G | |
| XM_011542840.3:c.5005+8A>G | XP_011541142.1:n.5005+8A>G | |
| XM_011542842.3:c.4840+8A>G | XP_011541144.1:n.4840+8A>G | |
| XM_011542843.2:c.5005+8A>G | XP_011541145.1:n.5005+8A>G | |
| XM_011542844.3:c.3961+8A>G | XP_011541146.1:n.3961+8A>G | |
| XM_011542845.2:c.3697+8A>G | XP_011541147.1:n.3697+8A>G | |
| XM_017017789.2:c.5005+8A>G | XP_016873278.1:n.5005+8A>G | |
| XM_017017790.2:c.5005+8A>G | XP_016873279.1:n.5005+8A>G | |
| XM_017017791.1:c.5005+8A>G | XP_016873280.1:n.5005+8A>G | |
| XM_017017792.2:c.5005+8A>G | XP_016873281.1:n.5005+8A>G | |
| XR_002957150.1:n.5605+8A>G | ||
| NM_001351834.2:c.5005+8A>G | NP_001338763.1:n.5005+8A>G | |
| NM_000051.4:c.5005+8A>G MANE Select | NP_000042.3:n.5005+8A>G |