Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571759C>G , CM000663.2:g.154571759C>G | GRCh38 |
| NC_000001.10:g.154544235C>G , CM000663.1:g.154544235C>G | GRCh37 |
| NC_000001.9:g.152810859C>G | NCBI36 |
| NG_008027.1:g.8979C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000748.3:c.936C>G MANE Select | NP_000739.1:p.Ile312Met |
| ENST00000368476.4:c.936C>G MANE Select | ENSP00000357461.3:p.Ile312Met |
| NM_000748.2:c.936C>G | NP_000739.1:p.Ile312Met |
| ENST00000368476.3:c.936C>G | ENSP00000357461.3:p.Ile312Met |
| ENST00000636034.1:c.936C>G | ENSP00000489703.1:p.Ile312Met |
| ENST00000637900.1:c.942C>G | ENSP00000490474.1:p.Ile314Met |
| XM_017000180.2:c.426C>G | XP_016855669.1:p.Ile142Met |
| XR_001736952.2:n.1188C>G |