Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356432G>A , CM000671.2:g.133356432G>A | GRCh38 |
| NC_000009.10:g.135213129G>A | NCBI36 |
| NG_008477.1:g.5054C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.22C>T MANE Select | NP_003163.1:p.Gln8Ter |
| ENST00000371974.8:c.22C>T MANE Select | ENSP00000361042.3:p.Gln8Ter |
| NM_001280787.1:c.-254C>T | NP_001267716.1:n.-254C>T |
| NM_003172.3:c.22C>T | NP_003163.1:p.Gln8Ter |
| ENST00000371974.7:c.22C>T | ENSP00000361042.3:p.Gln8Ter |
| ENST00000463965.1:n.245C>T | |
| ENST00000615505.4:c.-254C>T | ENSP00000482067.1:n.-254C>T |