Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571778C>G , CM000663.2:g.154571778C>G | GRCh38 |
| NC_000001.10:g.154544254C>G , CM000663.1:g.154544254C>G | GRCh37 |
| NC_000001.9:g.152810878C>G | NCBI36 |
| NG_008027.1:g.8998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.955C>G MANE Select | ENSP00000357461.3:p.Leu319Val | |
| ENST00000636034.1:c.955C>G | ENSP00000489703.1:p.Leu319Val | |
| ENST00000637900.1:c.961C>G | ENSP00000490474.1:p.Leu321Val | |
| ENST00000368476.3:c.955C>G | ENSP00000357461.3:p.Leu319Val | |
| NM_000748.2:c.955C>G | NP_000739.1:p.Leu319Val | |
| XM_017000180.2:c.445C>G | XP_016855669.1:p.Leu149Val | |
| XR_001736952.2:n.1207C>G | ||
| NM_000748.3:c.955C>G MANE Select | NP_000739.1:p.Leu319Val |