Linked Data
ClinVar Variation Id:
31234
ClinVar RCV Id:
RCV000024233
dbSNP Id:
rs387907148
gnomAD v4:
5-95517186-G-A
PubMed:
PMID:20176027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95517186G>A , CM000667.2:g.95517186G>A | GRCh38 |
| NC_000005.9:g.94852890G>A , CM000667.1:g.94852890G>A | GRCh37 |
| NC_000005.8:g.94878646G>A | NCBI36 |
| NG_023414.1:g.42820C>T , LRG_173:g.42820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2541C>T | ||
| ENST00000513232.2:c.*966C>T | ENSP00000422749.2:n.*966C>T | |
| ENST00000698450.1:n.1635C>T | ||
| ENST00000698451.1:n.1671C>T | ||
| ENST00000698452.1:n.2742C>T | ||
| ENST00000698453.1:c.2251C>T | ENSP00000513735.1:p.Gln751Ter | |
| ENST00000698454.1:c.2242C>T | ENSP00000513736.1:p.Gln748Ter | |
| ENST00000698455.1:c.*2227C>T | ENSP00000513737.1:n.*2227C>T | |
| ENST00000698456.1:c.*1109C>T | ENSP00000513738.1:n.*1109C>T | |
| ENST00000698457.1:c.2041C>T | ENSP00000513739.1:p.Gln681Ter | |
| ENST00000698458.1:c.2287C>T | ENSP00000513740.1:p.Gln763Ter | |
| ENST00000698459.1:c.2251C>T | ENSP00000513741.1:p.Gln751Ter | |
| ENST00000698460.1:c.*93C>T | ENSP00000513742.1:n.*93C>T | |
| ENST00000698461.1:n.2541C>T | ||
| ENST00000698462.1:n.2541C>T | ||
| ENST00000698468.1:n.2742C>T | ||
| ENST00000698469.1:c.*1598C>T | ENSP00000513743.1:n.*1598C>T | |
| ENST00000698470.1:c.*93C>T | ENSP00000513744.1:n.*93C>T | |
| ENST00000698471.1:n.2541C>T | ||
| ENST00000698472.1:c.*966C>T | ENSP00000513745.1:n.*966C>T | |
| ENST00000698473.1:n.2541C>T | ||
| ENST00000698474.1:n.2541C>T | ||
| ENST00000698475.1:n.2541C>T | ||
| ENST00000698476.1:c.2251C>T | ENSP00000513746.1:p.Gln751Ter | |
| ENST00000698477.1:c.2251C>T | ENSP00000513747.1:p.Gln751Ter | |
| ENST00000698478.1:n.2541C>T | ||
| ENST00000698479.1:c.2251C>T | ENSP00000513748.1:p.Gln751Ter | |
| ENST00000698480.1:c.2251C>T | ENSP00000513749.1:p.Gln751Ter | |
| ENST00000698481.1:c.2251C>T | ENSP00000513750.1:p.Gln751Ter | |
| ENST00000698482.1:n.2541C>T | ||
| ENST00000698483.1:n.2541C>T | ||
| ENST00000698484.1:c.2251C>T | ENSP00000513751.1:p.Gln751Ter | |
| ENST00000698485.1:c.2251C>T | ENSP00000513752.1:p.Gln751Ter | |
| ENST00000698486.1:n.2541C>T | ||
| ENST00000698487.1:c.2251C>T | ENSP00000513753.1:p.Gln751Ter | |
| ENST00000698488.1:c.2115-126C>T | ENSP00000513754.1:n.2115-126C>T | |
| ENST00000698489.1:n.6326C>T | ||
| ENST00000698490.1:c.2251C>T | ENSP00000513755.1:p.Gln751Ter | |
| ENST00000698492.1:c.*966C>T | ENSP00000513756.1:n.*966C>T | |
| ENST00000698493.1:n.2541C>T | ||
| ENST00000698494.1:c.2144C>T | ENSP00000513757.1:p.Thr715Ile | |
| ENST00000358746.7:c.2251C>T MANE Select | ENSP00000351596.3:p.Gln751Ter | |
| ENST00000649566.1:c.2251C>T | ENSP00000497948.1:p.Gln751Ter | |
| ENST00000358746.6:c.2251C>T | ENSP00000351596.2:p.Gln751Ter | |
| ENST00000507805.5:n.273C>T | ||
| NM_014639.3:c.2251C>T , LRG_173t1:c.2251C>T | NP_055454.1:p.Gln751Ter | |
| XR_948312.1:n.2520C>T | ||
| XR_001742370.2:n.2523C>T | ||
| NM_014639.4:c.2251C>T MANE Select | NP_055454.1:p.Gln751Ter |