Linked Data
dbSNP Id:
rs1048500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912062T>A , CM000674.2:g.4912062T>A | GRCh38 |
| NC_000012.11:g.5021228T>A , CM000674.1:g.5021228T>A | GRCh37 |
| NC_000012.10:g.4891489T>A | NCBI36 |
| NG_011815.1:g.7156T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.684T>A MANE Select | ENSP00000371985.3:p.Cys228Ter | |
| ENST00000543874.3:n.105+1590T>A | ||
| ENST00000639306.1:c.522T>A | ENSP00000492506.1:p.Cys174Ter | |
| ENST00000382545.3:c.684T>A | ENSP00000371985.3:p.Cys228Ter | |
| ENST00000541095.1:n.105+1590T>A | ||
| ENST00000543874.2:n.96+1590T>A | ||
| NM_000217.2:c.684T>A | NP_000208.2:p.Cys228Ter | |
| NM_000217.3:c.684T>A MANE Select | NP_000208.2:p.Cys228Ter |