Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52811974G>A , CM000674.2:g.52811974G>A | GRCh38 |
| NC_000012.11:g.53205758G>A , CM000674.1:g.53205758G>A | GRCh37 |
| NC_000012.10:g.51492025G>A | NCBI36 |
| NG_007380.1:g.7578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.466C>T MANE Select | ENSP00000448220.1:p.Gln156Ter | |
| ENST00000548097.5:c.215C>T | ENSP00000449755.1:p.Ala72Val | |
| ENST00000551436.1:n.24C>T | ||
| ENST00000551956.1:c.466C>T | ENSP00000448220.1:p.Gln156Ter | |
| ENST00000552668.1:c.*83-1158C>T | ENSP00000447320.1:n.*83-1158C>T | |
| NM_002272.3:c.466C>T | NP_002263.3:p.Gln156Ter | |
| NM_002272.4:c.466C>T MANE Select | NP_002263.3:p.Gln156Ter |