Linked Data
ClinVar Variation Id:
632874
dbSNP Id:
rs1248760084
gnomAD v2:
19-11230776-A-G
gnomAD v3:
19-11120100-A-G
gnomAD v4:
19-11120100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120100A>G , CM000681.2:g.11120100A>G | GRCh38 |
| NC_000019.9:g.11230776A>G , CM000681.1:g.11230776A>G | GRCh37 |
| NC_000019.8:g.11091776A>G | NCBI36 |
| NG_009060.1:g.35720A>G , LRG_274:g.35720A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2112A>G | ENSP00000252444.6:p.Val704= | |
| ENST00000559340.2:c.1714A>G | ENSP00000453696.2:p.Ile572Val | |
| ENST00000560467.2:c.1734A>G | ENSP00000453513.2:p.Val578= | |
| ENST00000558518.6:c.1854A>G MANE Select | ENSP00000454071.1:p.Val618= | |
| ENST00000252444.9:c.2108A>G | ||
| ENST00000455727.6:c.1350A>G | ENSP00000397829.2:p.Val450= | |
| ENST00000535915.5:c.1731A>G | ENSP00000440520.1:p.Val577= | |
| ENST00000545707.5:c.1473A>G | ENSP00000437639.1:p.Val491= | |
| ENST00000557933.5:c.1854A>G | ENSP00000453557.1:p.Val618= | |
| ENST00000558013.5:c.1854A>G | ENSP00000453346.1:p.Val618= | |
| ENST00000558518.5:c.1854A>G | ENSP00000454071.1:p.Val618= | |
| ENST00000559340.1:c.435A>G | ||
| NM_000527.4:c.1854A>G , LRG_274t1:c.1854A>G | NP_000518.1:p.Val618= | |
| NM_001195798.1:c.1854A>G | NP_001182727.1:p.Val618= | |
| NM_001195799.1:c.1731A>G | NP_001182728.1:p.Val577= | |
| NM_001195800.1:c.1350A>G | NP_001182729.1:p.Val450= | |
| NM_001195803.1:c.1473A>G | NP_001182732.1:p.Val491= | |
| XM_011528010.1:c.1854A>G | XP_011526312.1:p.Val618= | |
| XM_011528011.1:c.1473A>G | XP_011526313.1:p.Val491= | |
| XR_244074.2:n.1864A>G | ||
| XM_011528010.2:c.1854A>G | XP_011526312.1:p.Val618= | |
| XR_001753685.2:n.1971A>G | ||
| XR_001753686.2:n.1831A>G | ||
| NM_000527.5:c.1854A>G MANE Select | NP_000518.1:p.Val618= | |
| NM_001195798.2:c.1854A>G | NP_001182727.1:p.Val618= | |
| NM_001195799.2:c.1731A>G | NP_001182728.1:p.Val577= | |
| NM_001195800.2:c.1350A>G | NP_001182729.1:p.Val450= | |
| NM_001195803.2:c.1473A>G | NP_001182732.1:p.Val491= |