Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352705G>A , CM000671.2:g.133352705G>A | GRCh38 |
| NC_000009.10:g.135209381G>A | NCBI36 |
| NG_008477.1:g.8802C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.577C>T MANE Select | NP_003163.1:p.Gln193Ter |
| ENST00000371974.8:c.577C>T MANE Select | ENSP00000361042.3:p.Gln193Ter |
| NM_001280787.1:c.250C>T | NP_001267716.1:p.Gln84Ter |
| NM_003172.3:c.577C>T | NP_003163.1:p.Gln193Ter |
| ENST00000371974.7:c.577C>T | ENSP00000361042.3:p.Gln193Ter |
| ENST00000437995.1:n.487C>T | |
| ENST00000495952.5:n.567C>T | |
| ENST00000615505.4:c.250C>T | ENSP00000482067.1:p.Gln84Ter |
| XM_011518942.1:c.250C>T | XP_011517244.1:p.Gln84Ter |