Linked Data
ClinVar Variation Id:
2596179
ClinVar RCV Id:
RCV004338346
dbSNP Id:
rs150032309
ExAC:
4:69512911 C / T
gnomAD v2:
4-69512911-C-T
gnomAD v3:
4-68647193-C-T
gnomAD v4:
4-68647193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647193C>T , CM000666.2:g.68647193C>T | GRCh38 |
| NC_000004.11:g.69512911C>T , CM000666.1:g.69512911C>T | GRCh37 |
| NC_000004.10:g.69195506C>T | NCBI36 |
| NG_052676.1:g.28584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1504G>A MANE Select | ENSP00000341045.5:p.Val502Met | |
| ENST00000338206.5:c.1504G>A | ENSP00000341045.5:p.Val502Met | |
| ENST00000616841.4:c.1504G>A | ENSP00000482004.1:p.Val502Met | |
| NM_001076.3:c.1504G>A | NP_001067.2:p.Val502Met | |
| NM_001076.4:c.1504G>A MANE Select | NP_001067.2:p.Val502Met |