Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352696G= , CM000671.2:g.133352696G= | GRCh38 |
| NC_000009.10:g.135209372G= | NCBI36 |
| NG_008477.1:g.8811C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.586C= MANE Select | NP_003163.1:p.Gln196= |
| ENST00000371974.8:c.586C= MANE Select | ENSP00000361042.3:p.Gln196= |
| NM_001280787.1:c.259C= | NP_001267716.1:p.Gln87= |
| NM_003172.3:c.586C= | NP_003163.1:p.Gln196= |
| ENST00000371974.7:c.586C= | ENSP00000361042.3:p.Gln196= |
| ENST00000437995.1:n.496C= | |
| ENST00000495952.5:n.576C= | |
| ENST00000615505.4:c.259C= | ENSP00000482067.1:p.Gln87= |
| XM_011518942.1:c.259C= | XP_011517244.1:p.Gln87= |