Linked Data
dbSNP Id:
rs1325559004
gnomAD v3:
8-16993221-G-A
gnomAD v4:
8-16993221-G-A
COSMIC:
COSM486240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993221G>A , CM000670.2:g.16993221G>A | GRCh38 |
| NC_000008.10:g.16850730G>A , CM000670.1:g.16850730G>A | GRCh37 |
| NC_000008.9:g.16895101G>A | NCBI36 |
| NG_015978.1:g.13945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.487C>T MANE Select | ENSP00000180166.5:p.Arg163Cys | |
| ENST00000180166.5:c.487C>T | ENSP00000180166.5:p.Arg163Cys | |
| ENST00000519941.1:c.191C>T | ||
| NM_019851.2:c.487C>T | NP_062825.1:p.Arg163Cys | |
| NM_019851.3:c.487C>T MANE Select | NP_062825.1:p.Arg163Cys |