Linked Data
dbSNP Id:
rs775107368
ExAC:
X:25028409 T / C
gnomAD v2:
X-25028409-T-C
gnomAD v4:
X-25010292-T-C
COSMIC:
COSM1183696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010292T>C , CM000685.2:g.25010292T>C | GRCh38 |
| NC_000023.10:g.25028409T>C , CM000685.1:g.25028409T>C | GRCh37 |
| NC_000023.9:g.24938330T>C | NCBI36 |
| NG_008281.1:g.10657A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1087A>G MANE Select | ENSP00000368332.4:p.Met363Val | |
| ENST00000379044.4:c.1087A>G | ENSP00000368332.4:p.Met363Val | |
| NM_139058.2:c.1087A>G | NP_620689.1:p.Met363Val | |
| NM_139058.3:c.1087A>G MANE Select | NP_620689.1:p.Met363Val |