Linked Data
ClinVar Variation Id:
3147932
ClinVar RCV Id:
RCV004437765
dbSNP Id:
rs779933113
ExAC:
19:18896596 C / T
gnomAD v2:
19-18896596-C-T
gnomAD v4:
19-18785786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785786C>T , CM000681.2:g.18785786C>T | GRCh38 |
| NC_000019.9:g.18896596C>T , CM000681.1:g.18896596C>T | GRCh37 |
| NC_000019.8:g.18757596C>T | NCBI36 |
| NG_007070.1:g.10519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1555G>A MANE Select | ENSP00000222271.2:p.Val519Met | |
| ENST00000222271.6:c.1555G>A | ENSP00000222271.2:p.Val519Met | |
| ENST00000425807.1:c.1396G>A | ENSP00000403792.1:p.Val466Met | |
| ENST00000542601.6:c.1456G>A | ENSP00000439156.2:p.Val486Met | |
| NM_000095.2:c.1555G>A | NP_000086.2:p.Val519Met | |
| NM_000095.3:c.1555G>A MANE Select | NP_000086.2:p.Val519Met |