Linked Data
ClinVar Variation Id:
133604
dbSNP Id:
rs2227924
ExAC:
11:108122592 C / G
gnomAD v2:
11-108122592-C-G
gnomAD v3:
11-108251865-C-G
gnomAD v4:
11-108251865-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108251865C>G , CM000673.2:g.108251865C>G | GRCh38 |
| NC_000011.9:g.108122592C>G , CM000673.1:g.108122592C>G | GRCh37 |
| NC_000011.8:g.107627802C>G | NCBI36 |
| NG_009830.1:g.34034C>G , LRG_135:g.34034C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.1636C>G | ENSP00000388058.2:p.Leu546Val | |
| ENST00000713593.1:c.*1107C>G | ENSP00000518889.1:n.*1107C>G | |
| ENST00000278616.9:c.1636C>G | ENSP00000278616.4:p.Leu546Val | |
| ENST00000682516.1:n.1770C>G | ||
| ENST00000683174.1:n.1786C>G | ||
| ENST00000683605.1:n.1131C>G | ||
| ENST00000684037.1:c.*571C>G | ENSP00000508245.1:n.*571C>G | |
| ENST00000684061.1:n.1770C>G | ||
| ENST00000527805.6:c.1636C>G | ENSP00000435747.2:p.Leu546Val | |
| ENST00000675595.1:c.1471C>G | ENSP00000502563.1:p.Leu491Val | |
| ENST00000675843.1:c.1636C>G MANE Select | ENSP00000501606.1:p.Leu546Val | |
| ENST00000278616.8:c.1636C>G | ENSP00000278616.4:p.Leu546Val | |
| ENST00000452508.6:c.1636C>G | ENSP00000388058.2:p.Leu546Val | |
| ENST00000527805.5:c.1636C>G | ENSP00000435747.1:p.Leu546Val | |
| NM_000051.3:c.1636C>G , LRG_135t1:c.1636C>G | NP_000042.3:p.Leu546Val | |
| XM_005271561.3:c.1636C>G | XP_005271618.2:p.Leu546Val | |
| XM_005271562.3:c.1636C>G | XP_005271619.2:p.Leu546Val | |
| XM_006718843.2:c.1636C>G | XP_006718906.1:p.Leu546Val | |
| XM_011542840.1:c.1636C>G | XP_011541142.1:p.Leu546Val | |
| XM_011542841.1:c.1636C>G | XP_011541143.1:p.Leu546Val | |
| XM_011542842.1:c.1471C>G | XP_011541144.1:p.Leu491Val | |
| XM_011542843.1:c.1636C>G | XP_011541145.1:p.Leu546Val | |
| XM_011542844.1:c.592C>G | XP_011541146.1:p.Leu198Val | |
| XM_011542845.1:c.328C>G | XP_011541147.1:p.Leu110Val | |
| XM_011542846.1:c.1636C>G | XP_011541148.1:p.Leu546Val | |
| NM_001351834.1:c.1636C>G | NP_001338763.1:p.Leu546Val | |
| XM_005271562.5:c.1636C>G | XP_005271619.2:p.Leu546Val | |
| XM_006718843.4:c.1636C>G | XP_006718906.1:p.Leu546Val | |
| XM_011542840.3:c.1636C>G | XP_011541142.1:p.Leu546Val | |
| XM_011542842.3:c.1471C>G | XP_011541144.1:p.Leu491Val | |
| XM_011542843.2:c.1636C>G | XP_011541145.1:p.Leu546Val | |
| XM_011542844.3:c.592C>G | XP_011541146.1:p.Leu198Val | |
| XM_011542845.2:c.328C>G | XP_011541147.1:p.Leu110Val | |
| XM_017017789.2:c.1636C>G | XP_016873278.1:p.Leu546Val | |
| XM_017017790.2:c.1636C>G | XP_016873279.1:p.Leu546Val | |
| XM_017017791.1:c.1636C>G | XP_016873280.1:p.Leu546Val | |
| XM_017017792.2:c.1636C>G | XP_016873281.1:p.Leu546Val | |
| XR_002957150.1:n.2369C>G | ||
| NM_001351834.2:c.1636C>G | NP_001338763.1:p.Leu546Val | |
| NM_000051.4:c.1636C>G MANE Select | NP_000042.3:p.Leu546Val |