Linked Data
ClinVar Variation Id:
1785078
dbSNP Id:
rs1258914809
gnomAD v2:
19-11231109-C-T
gnomAD v3:
19-11120433-C-T
gnomAD v4:
19-11120433-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120433C>T , CM000681.2:g.11120433C>T | GRCh38 |
| NC_000019.9:g.11231109C>T , CM000681.1:g.11231109C>T | GRCh37 |
| NC_000019.8:g.11092109C>T | NCBI36 |
| NG_009060.1:g.36053C>T , LRG_274:g.36053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2309C>T | ENSP00000252444.6:p.Ala770Val | |
| ENST00000559340.2:c.*120C>T | ENSP00000453696.2:n.*120C>T | |
| ENST00000560467.2:c.1931C>T | ENSP00000453513.2:p.Ala644Val | |
| ENST00000558518.6:c.2051C>T MANE Select | ENSP00000454071.1:p.Ala684Val | |
| ENST00000252444.9:c.2305C>T | ||
| ENST00000455727.6:c.1547C>T | ENSP00000397829.2:p.Ala516Val | |
| ENST00000535915.5:c.1928C>T | ENSP00000440520.1:p.Ala643Val | |
| ENST00000545707.5:c.1606+200C>T | ENSP00000437639.1:n.1606+200C>T | |
| ENST00000557933.5:c.2051C>T | ENSP00000453557.1:p.Ala684Val | |
| ENST00000558013.5:c.2051C>T | ENSP00000453346.1:p.Ala684Val | |
| ENST00000558518.5:c.2051C>T | ENSP00000454071.1:p.Ala684Val | |
| NM_000527.4:c.2051C>T , LRG_274t1:c.2051C>T | NP_000518.1:p.Ala684Val | |
| NM_001195798.1:c.2051C>T | NP_001182727.1:p.Ala684Val | |
| NM_001195799.1:c.1928C>T | NP_001182728.1:p.Ala643Val | |
| NM_001195800.1:c.1547C>T | NP_001182729.1:p.Ala516Val | |
| NM_001195803.1:c.1606+200C>T | NP_001182732.1:n.1606+200C>T | |
| XM_011528010.1:c.2051C>T | XP_011526312.1:p.Ala684Val | |
| XM_011528011.1:c.1670C>T | XP_011526313.1:p.Ala557Val | |
| XR_244074.2:n.2061C>T | ||
| XM_011528010.2:c.2051C>T | XP_011526312.1:p.Ala684Val | |
| XR_001753685.2:n.2168C>T | ||
| XR_001753686.2:n.2028C>T | ||
| NM_000527.5:c.2051C>T MANE Select | NP_000518.1:p.Ala684Val | |
| NM_001195798.2:c.2051C>T | NP_001182727.1:p.Ala684Val | |
| NM_001195799.2:c.1928C>T | NP_001182728.1:p.Ala643Val | |
| NM_001195800.2:c.1547C>T | NP_001182729.1:p.Ala516Val | |
| NM_001195803.2:c.1606+200C>T | NP_001182732.1:n.1606+200C>T |