Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52808702G>A , CM000674.2:g.52808702G>A | GRCh38 |
| NC_000012.11:g.53202486G>A , CM000674.1:g.53202486G>A | GRCh37 |
| NC_000012.10:g.51488753G>A | NCBI36 |
| NG_007380.1:g.10850C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002272.4:c.983C>T MANE Select | NP_002263.3:p.Ala328Val |
| ENST00000551956.2:c.983C>T MANE Select | ENSP00000448220.1:p.Ala328Val |
| NM_002272.3:c.983C>T | NP_002263.3:p.Ala328Val |
| ENST00000548097.5:c.*495C>T | ENSP00000449755.1:n.*495C>T |
| ENST00000551956.1:c.983C>T | ENSP00000448220.1:p.Ala328Val |