Linked Data
ClinVar Variation Id:
142167
dbSNP Id:
rs587782276
ExAC:
11:108158325 A / G
gnomAD v2:
11-108158325-A-G
gnomAD v4:
11-108287598-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108287598A>G , CM000673.2:g.108287598A>G | GRCh38 |
| NC_000011.9:g.108158325A>G , CM000673.1:g.108158325A>G | GRCh37 |
| NC_000011.8:g.107663535A>G | NCBI36 |
| NG_009830.1:g.69767A>G , LRG_135:g.69767A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.3994-2A>G | ENSP00000388058.2:n.3994-2A>G | |
| ENST00000713593.1:c.*3465-2A>G | ENSP00000518889.1:n.*3465-2A>G | |
| ENST00000278616.9:c.3994-2A>G | ENSP00000278616.4:n.3994-2A>G | |
| ENST00000533733.6:n.1255A>G | ||
| ENST00000683174.1:n.4144-2A>G | ||
| ENST00000527805.6:c.3994-2A>G | ENSP00000435747.2:n.3994-2A>G | |
| ENST00000675595.1:c.3829-2A>G | ENSP00000502563.1:n.3829-2A>G | |
| ENST00000675843.1:c.3994-2A>G MANE Select | ENSP00000501606.1:n.3994-2A>G | |
| ENST00000278616.8:c.3994-2A>G | ENSP00000278616.4:n.3994-2A>G | |
| ENST00000452508.6:c.3994-2A>G | ENSP00000388058.2:n.3994-2A>G | |
| ENST00000524792.5:n.207A>G | ||
| ENST00000527805.5:c.3994-2A>G | ENSP00000435747.1:n.3994-2A>G | |
| ENST00000533733.5:n.421A>G | ||
| NM_000051.3:c.3994-2A>G , LRG_135t1:c.3994-2A>G | NP_000042.3:n.3994-2A>G | |
| XM_005271561.3:c.3994-2A>G | XP_005271618.2:n.3994-2A>G | |
| XM_005271562.3:c.3994-2A>G | XP_005271619.2:n.3994-2A>G | |
| XM_006718843.2:c.3994-2A>G | XP_006718906.1:n.3994-2A>G | |
| XM_006718845.1:c.-51-2A>G | XP_006718908.1:n.-51-2A>G | |
| XM_011542840.1:c.3994-2A>G | XP_011541142.1:n.3994-2A>G | |
| XM_011542841.1:c.3994-2A>G | XP_011541143.1:n.3994-2A>G | |
| XM_011542842.1:c.3829-2A>G | XP_011541144.1:n.3829-2A>G | |
| XM_011542843.1:c.3994-2A>G | XP_011541145.1:n.3994-2A>G | |
| XM_011542844.1:c.2950-2A>G | XP_011541146.1:n.2950-2A>G | |
| XM_011542845.1:c.2686-2A>G | XP_011541147.1:n.2686-2A>G | |
| XM_011542846.1:c.3994-2A>G | XP_011541148.1:n.3994-2A>G | |
| NM_001351834.1:c.3994-2A>G | NP_001338763.1:n.3994-2A>G | |
| XM_005271562.5:c.3994-2A>G | XP_005271619.2:n.3994-2A>G | |
| XM_006718843.4:c.3994-2A>G | XP_006718906.1:n.3994-2A>G | |
| XM_006718845.2:c.-51-2A>G | XP_006718908.1:n.-51-2A>G | |
| XM_011542840.3:c.3994-2A>G | XP_011541142.1:n.3994-2A>G | |
| XM_011542842.3:c.3829-2A>G | XP_011541144.1:n.3829-2A>G | |
| XM_011542843.2:c.3994-2A>G | XP_011541145.1:n.3994-2A>G | |
| XM_011542844.3:c.2950-2A>G | XP_011541146.1:n.2950-2A>G | |
| XM_011542845.2:c.2686-2A>G | XP_011541147.1:n.2686-2A>G | |
| XM_017017789.2:c.3994-2A>G | XP_016873278.1:n.3994-2A>G | |
| XM_017017790.2:c.3994-2A>G | XP_016873279.1:n.3994-2A>G | |
| XM_017017791.1:c.3994-2A>G | XP_016873280.1:n.3994-2A>G | |
| XM_017017792.2:c.3994-2A>G | XP_016873281.1:n.3994-2A>G | |
| XR_002957150.1:n.4727-2A>G | ||
| NM_001351834.2:c.3994-2A>G | NP_001338763.1:n.3994-2A>G | |
| NM_000051.4:c.3994-2A>G MANE Select | NP_000042.3:n.3994-2A>G |