Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74660652G>T , CM000671.2:g.74660652G>T | GRCh38 |
| NC_000009.11:g.77275568G>T , CM000671.1:g.77275568G>T | GRCh37 |
| NC_000009.10:g.76465388G>T | NCBI36 |
| NG_046926.2:g.168317G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006914.4:c.673G>T MANE Select | NP_008845.2:p.Glu225Ter |
| ENST00000376896.8:c.673G>T MANE Select | ENSP00000366093.2:p.Glu225Ter |
| NM_001365023.1:c.706G>T | NP_001351952.1:p.Glu236Ter |
| NM_006914.3:c.673G>T | NP_008845.2:p.Glu225Ter |
| ENST00000376896.7:c.673G>T | ENSP00000366093.2:p.Glu225Ter |
| ENST00000396204.2:c.706G>T | ENSP00000379507.2:p.Glu236Ter |