Linked Data
ClinVar Variation Id:
252333
ClinVar RCV Id:
RCV000238534
dbSNP Id:
rs879255208
PubMed:
PMID:11462246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129540T>A , CM000681.2:g.11129540T>A | GRCh38 |
| NC_000019.9:g.11240216T>A , CM000681.1:g.11240216T>A | GRCh37 |
| NC_000019.8:g.11101216T>A | NCBI36 |
| NG_009060.1:g.45160T>A , LRG_274:g.45160T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2675T>A | ENSP00000252444.6:p.Val892Asp | |
| ENST00000559340.2:c.*486T>A | ENSP00000453696.2:n.*486T>A | |
| ENST00000560467.2:c.2297T>A | ENSP00000453513.2:p.Val766Asp | |
| ENST00000558518.6:c.2417T>A MANE Select | ENSP00000454071.1:p.Val806Asp | |
| ENST00000252444.9:c.2671T>A | ||
| ENST00000455727.6:c.1913T>A | ENSP00000397829.2:p.Val638Asp | |
| ENST00000535915.5:c.2294T>A | ENSP00000440520.1:p.Val765Asp | |
| ENST00000545707.5:c.1883T>A | ENSP00000437639.1:p.Val628Asp | |
| ENST00000557933.5:c.2479T>A | ENSP00000453557.1:p.Ser827Thr | |
| ENST00000558013.5:c.2417T>A | ENSP00000453346.1:p.Val806Asp | |
| ENST00000558518.5:c.2417T>A | ENSP00000454071.1:p.Val806Asp | |
| ENST00000560628.1:n.108+1886T>A | ||
| NM_000527.4:c.2417T>A , LRG_274t1:c.2417T>A | NP_000518.1:p.Val806Asp | |
| NM_001195798.1:c.2417T>A | NP_001182727.1:p.Val806Asp | |
| NM_001195799.1:c.2294T>A | NP_001182728.1:p.Val765Asp | |
| NM_001195800.1:c.1913T>A | NP_001182729.1:p.Val638Asp | |
| NM_001195803.1:c.1883T>A | NP_001182732.1:p.Val628Asp | |
| XM_011528010.1:c.2339T>A | XP_011526312.1:p.Val780Asp | |
| XM_011528011.1:c.2036T>A | XP_011526313.1:p.Val679Asp | |
| XR_244074.2:n.2427T>A | ||
| XM_011528010.2:c.2339T>A | XP_011526312.1:p.Val780Asp | |
| XR_001753685.2:n.2751T>A | ||
| XR_001753686.2:n.2394T>A | ||
| NM_000527.5:c.2417T>A MANE Select | NP_000518.1:p.Val806Asp | |
| NM_001195798.2:c.2417T>A | NP_001182727.1:p.Val806Asp | |
| NM_001195799.2:c.2294T>A | NP_001182728.1:p.Val765Asp | |
| NM_001195800.2:c.1913T>A | NP_001182729.1:p.Val638Asp | |
| NM_001195803.2:c.1883T>A | NP_001182732.1:p.Val628Asp |