Linked Data
ClinVar Variation Id:
132685
ClinVar RCV Id:
RCV000119106
RCV000120166
RCV000131001
RCV000223988
RCV002225343
RCV001354360
RCV003315697
dbSNP Id:
rs3218707
ExAC:
11:108114727 G / C
gnomAD v2:
11-108114727-G-C
gnomAD v3:
11-108244000-G-C
gnomAD v4:
11-108244000-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108244000G>C , CM000673.2:g.108244000G>C | GRCh38 |
| NC_000011.9:g.108114727G>C , CM000673.1:g.108114727G>C | GRCh37 |
| NC_000011.8:g.107619937G>C | NCBI36 |
| NG_009830.1:g.26169G>C , LRG_135:g.26169G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.544G>C | ENSP00000388058.2:p.Val182Leu | |
| ENST00000713593.1:c.*15G>C | ENSP00000518889.1:n.*15G>C | |
| ENST00000278616.9:c.544G>C | ENSP00000278616.4:p.Val182Leu | |
| ENST00000682430.1:n.643G>C | ||
| ENST00000682516.1:n.678G>C | ||
| ENST00000682956.1:n.678G>C | ||
| ENST00000683100.1:n.2222G>C | ||
| ENST00000683174.1:n.694G>C | ||
| ENST00000683605.1:n.39G>C | ||
| ENST00000684037.1:c.544G>C | ENSP00000508245.1:p.Val182Leu | |
| ENST00000684061.1:n.678G>C | ||
| ENST00000684179.1:n.513G>C | ||
| ENST00000527805.6:c.544G>C | ENSP00000435747.2:p.Val182Leu | |
| ENST00000675595.1:c.379G>C | ENSP00000502563.1:p.Val127Leu | |
| ENST00000675843.1:c.544G>C MANE Select | ENSP00000501606.1:p.Val182Leu | |
| ENST00000278616.8:c.544G>C | ENSP00000278616.4:p.Val182Leu | |
| ENST00000452508.6:c.544G>C | ENSP00000388058.2:p.Val182Leu | |
| ENST00000527805.5:c.544G>C | ENSP00000435747.1:p.Val182Leu | |
| ENST00000527891.5:c.379G>C | ENSP00000433955.1:p.Val127Leu | |
| NM_000051.3:c.544G>C , LRG_135t1:c.544G>C | NP_000042.3:p.Val182Leu | |
| XM_005271561.3:c.544G>C | XP_005271618.2:p.Val182Leu | |
| XM_005271562.3:c.544G>C | XP_005271619.2:p.Val182Leu | |
| XM_006718843.2:c.544G>C | XP_006718906.1:p.Val182Leu | |
| XM_011542840.1:c.544G>C | XP_011541142.1:p.Val182Leu | |
| XM_011542841.1:c.544G>C | XP_011541143.1:p.Val182Leu | |
| XM_011542842.1:c.379G>C | XP_011541144.1:p.Val127Leu | |
| XM_011542843.1:c.544G>C | XP_011541145.1:p.Val182Leu | |
| XM_011542844.1:c.-501G>C | XP_011541146.1:n.-501G>C | |
| XM_011542846.1:c.544G>C | XP_011541148.1:p.Val182Leu | |
| NM_001351834.1:c.544G>C | NP_001338763.1:p.Val182Leu | |
| XM_005271562.5:c.544G>C | XP_005271619.2:p.Val182Leu | |
| XM_006718843.4:c.544G>C | XP_006718906.1:p.Val182Leu | |
| XM_011542840.3:c.544G>C | XP_011541142.1:p.Val182Leu | |
| XM_011542842.3:c.379G>C | XP_011541144.1:p.Val127Leu | |
| XM_011542843.2:c.544G>C | XP_011541145.1:p.Val182Leu | |
| XM_011542844.3:c.-501G>C | XP_011541146.1:n.-501G>C | |
| XM_017017789.2:c.544G>C | XP_016873278.1:p.Val182Leu | |
| XM_017017790.2:c.544G>C | XP_016873279.1:p.Val182Leu | |
| XM_017017791.1:c.544G>C | XP_016873280.1:p.Val182Leu | |
| XM_017017792.2:c.544G>C | XP_016873281.1:p.Val182Leu | |
| XR_002957150.1:n.1277G>C | ||
| NM_001351834.2:c.544G>C | NP_001338763.1:p.Val182Leu | |
| NM_000051.4:c.544G>C MANE Select | NP_000042.3:p.Val182Leu |