Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352446G= , CM000671.2:g.133352446G= | GRCh38 |
| NC_000009.10:g.135209122G= | NCBI36 |
| NG_008477.1:g.9061C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.751C= MANE Select | ENSP00000361042.3:p.Gln251= | |
| ENST00000371974.7:c.751C= | ENSP00000361042.3:p.Gln251= | |
| ENST00000437995.1:n.661C= | ||
| ENST00000495952.5:n.741C= | ||
| ENST00000615505.4:c.424C= | ENSP00000482067.1:p.Gln142= | |
| NM_001280787.1:c.424C= | NP_001267716.1:p.Gln142= | |
| NM_003172.3:c.751C= | NP_003163.1:p.Gln251= | |
| XM_011518942.1:c.424C= | XP_011517244.1:p.Gln142= | |
| NM_003172.4:c.751C= MANE Select | NP_003163.1:p.Gln251= |