Linked Data
ClinVar Variation Id:
38987
ClinVar RCV Id:
RCV002223178
dbSNP Id:
rs281865491
gnomAD v2:
16-66565285-G-A
gnomAD v4:
16-66531382-G-A
PubMed:
PMID:23230576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66531382G>A , CM000678.2:g.66531382G>A | GRCh38 |
| NC_000016.9:g.66565285G>A , CM000678.1:g.66565285G>A | GRCh37 |
| NC_000016.8:g.65122786G>A | NCBI36 |
| NG_016862.1:g.24031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.205C>T | ENSP00000299697.9:p.Gln69Ter | |
| ENST00000417693.8:c.319C>T | ENSP00000407469.5:p.Gln107Ter | |
| ENST00000451102.7:c.280C>T | ENSP00000414334.4:p.Gln94Ter | |
| ENST00000527284.6:c.317C>T | ||
| ENST00000527800.6:c.82C>T | ENSP00000433770.1:p.Gln28Ter | |
| ENST00000544898.6:c.373C>T MANE Select | ENSP00000440898.2:p.Gln125Ter | |
| ENST00000567357.6:c.*231C>T | ENSP00000457959.2:n.*231C>T | |
| ENST00000569718.6:c.280C>T | ENSP00000464313.2:p.Gln94Ter | |
| ENST00000620035.5:c.298C>T | ENSP00000483833.2:p.Gln100Ter | |
| ENST00000676538.1:c.33-13505C>T | ||
| ENST00000677379.1:c.88C>T | ENSP00000503672.1:p.Gln30Ter | |
| ENST00000677420.1:c.82C>T | ENSP00000504648.1:p.Gln28Ter | |
| ENST00000677497.1:n.260C>T | ||
| ENST00000677555.1:c.82C>T | ENSP00000503331.1:p.Gln28Ter | |
| ENST00000677715.1:c.82C>T | ENSP00000502950.1:p.Gln28Ter | |
| ENST00000677739.1:c.55-2315C>T | ENSP00000504644.1:n.55-2315C>T | |
| ENST00000678015.1:c.82C>T | ENSP00000502959.1:p.Gln28Ter | |
| ENST00000678297.1:c.82C>T | ENSP00000503472.1:p.Gln28Ter | |
| ENST00000678314.1:c.82C>T | ENSP00000504438.1:p.Gln28Ter | |
| ENST00000678746.1:c.263C>T | ENSP00000503227.1:n.263C>T | |
| ENST00000679154.1:c.120C>T | ||
| ENST00000299697.11:c.373C>T | ENSP00000299697.8:p.Gln125Ter | |
| ENST00000417693.7:c.445C>T | ENSP00000407469.4:p.Gln149Ter | |
| ENST00000451102.6:c.499C>T | ENSP00000414334.3:p.Gln167Ter | |
| ENST00000525974.5:c.82C>T | ENSP00000434594.1:p.Gln28Ter | |
| ENST00000527284.5:c.280C>T | ENSP00000435312.1:p.Gln94Ter | |
| ENST00000527800.5:c.82C>T | ENSP00000433770.1:p.Gln28Ter | |
| ENST00000544898.5:c.373C>T | ENSP00000440898.2:p.Gln125Ter | |
| ENST00000545043.6:c.298C>T | ENSP00000438143.2:p.Gln100Ter | |
| ENST00000562484.2:c.82C>T | ENSP00000463326.1:p.Gln28Ter | |
| ENST00000563369.6:c.82C>T | ENSP00000463560.1:p.Gln28Ter | |
| ENST00000563478.5:c.82C>T | ENSP00000462341.1:p.Gln28Ter | |
| ENST00000564917.5:c.373C>T | ENSP00000455187.1:p.Gln125Ter | |
| ENST00000567357.5:c.*231C>T | ENSP00000457959.1:n.*231C>T | |
| ENST00000569718.5:c.267C>T | ||
| ENST00000620035.4:c.319C>T | ENSP00000483833.1:p.Gln107Ter | |
| NM_001172643.1:c.280C>T | NP_001166114.1:p.Gln94Ter | |
| NM_001172644.1:c.298C>T | NP_001166115.1:p.Gln100Ter | |
| NM_001172645.1:c.319C>T | NP_001166116.1:p.Gln107Ter | |
| NM_001271934.1:c.226C>T | NP_001258863.1:p.Gln76Ter | |
| NM_001271935.1:c.280C>T | NP_001258864.1:p.Gln94Ter | |
| NM_001272050.1:c.82C>T | NP_001258979.1:p.Gln28Ter | |
| NM_004614.4:c.373C>T | NP_004605.4:p.Gln125Ter | |
| NR_073520.1:n.1652C>T | ||
| NM_001172644.2:c.298C>T | NP_001166115.1:p.Gln100Ter | |
| NM_001271934.2:c.226C>T | NP_001258863.1:p.Gln76Ter | |
| NM_001272050.2:c.82C>T | NP_001258979.1:p.Gln28Ter | |
| NM_004614.5:c.373C>T MANE Select | NP_004605.4:p.Gln125Ter | |
| NR_073520.2:n.1362C>T | ||
| NM_001172645.2:c.319C>T | NP_001166116.1:p.Gln107Ter |