Linked Data
ClinVar Variation Id:
976056
ClinVar RCV Id:
RCV001253235
dbSNP Id:
rs2048670414
gnomAD v4:
X-25004837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004837C>T , CM000685.2:g.25004837C>T | GRCh38 |
| NC_000023.10:g.25022954C>T , CM000685.1:g.25022954C>T | GRCh37 |
| NC_000023.9:g.24932875C>T | NCBI36 |
| NG_008281.1:g.16112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1522G>A MANE Select | ENSP00000368332.4:p.Val508Met | |
| ENST00000379044.4:c.1522G>A | ENSP00000368332.4:p.Val508Met | |
| NM_139058.2:c.1522G>A | NP_620689.1:p.Val508Met | |
| NM_139058.3:c.1522G>A MANE Select | NP_620689.1:p.Val508Met |