Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52807215T>A , CM000674.2:g.52807215T>A | GRCh38 |
| NC_000012.11:g.53200999T>A , CM000674.1:g.53200999T>A | GRCh37 |
| NC_000012.10:g.51487266T>A | NCBI36 |
| NG_007380.1:g.12337A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.1417A>T MANE Select | ENSP00000448220.1:p.Ser473Cys | |
| ENST00000548097.5:c.*929A>T | ENSP00000449755.1:n.*929A>T | |
| ENST00000551956.1:c.1417A>T | ENSP00000448220.1:p.Ser473Cys | |
| NM_002272.3:c.1417A>T | NP_002263.3:p.Ser473Cys | |
| NM_002272.4:c.1417A>T MANE Select | NP_002263.3:p.Ser473Cys |