Linked Data
dbSNP Id:
rs1217150149
gnomAD v2:
18-58038607-A-G
gnomAD v3:
18-60371374-A-G
gnomAD v4:
18-60371374-A-G
COSMIC:
COSM5933721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371374A>G , CM000680.2:g.60371374A>G | GRCh38 |
| NC_000018.9:g.58038607A>G , CM000680.1:g.58038607A>G | GRCh37 |
| NC_000018.8:g.56189587A>G | NCBI36 |
| NG_016441.1:g.6395T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.976T>C MANE Select | ENSP00000299766.3:p.Cys326Arg | |
| ENST00000299766.4:c.976T>C | ENSP00000299766.3:p.Cys326Arg | |
| NM_005912.2:c.976T>C | NP_005903.2:p.Cys326Arg | |
| NM_005912.3:c.976T>C MANE Select | NP_005903.2:p.Cys326Arg |