Linked Data
dbSNP Id:
rs1923499988
gnomAD v3:
X-54495143-C-T
gnomAD v4:
X-54495143-C-T
COSMIC:
COSM1123448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495143C>T , CM000685.2:g.54495143C>T | GRCh38 |
| NC_000023.10:g.54521576C>T , CM000685.1:g.54521576C>T | GRCh37 |
| NC_000023.9:g.54538301C>T | NCBI36 |
| NG_008054.1:g.6024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.290G>A MANE Select | ENSP00000364277.3:p.Gly97Asp | |
| ENST00000375135.3:c.290G>A | ENSP00000364277.3:p.Gly97Asp | |
| NM_004463.2:c.290G>A | NP_004454.2:p.Gly97Asp | |
| NM_004463.3:c.290G>A MANE Select | NP_004454.2:p.Gly97Asp |