Linked Data
dbSNP Id:
rs141111550
gnomAD v3:
1-54999195-C-G
gnomAD v4:
1-54999195-C-G
COSMIC:
COSM5677600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999195C>G , CM000663.2:g.54999195C>G | GRCh38 |
| NC_000001.10:g.55464868C>G , CM000663.1:g.55464868C>G | GRCh37 |
| NC_000001.9:g.55237456C>G | NCBI36 |
| NG_008965.1:g.5252C>G | |
| NG_008965.2:g.5263C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.9C>G MANE Select | ENSP00000498282.1:p.Asp3Glu | |
| ENST00000371265.4:c.9C>G | ENSP00000360312.4:p.Asp3Glu | |
| NM_057176.2:c.9C>G | NP_476517.1:p.Asp3Glu | |
| NM_057176.3:c.9C>G MANE Select | NP_476517.1:p.Asp3Glu |