Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36859876A>C , CM000663.2:g.36859876A>C | GRCh38 |
| NC_000001.10:g.37325477A>C , CM000663.1:g.37325477A>C | GRCh37 |
| NC_000001.9:g.37098064A>C | NCBI36 |
| NG_011447.1:g.179368T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000831.4:c.928T>G MANE Select | NP_000822.2:p.Ser310Ala |
| ENST00000373091.8:c.928T>G MANE Select | ENSP00000362183.3:p.Ser310Ala |
| NM_000831.3:c.928T>G | NP_000822.2:p.Ser310Ala |
| ENST00000373091.7:c.928T>G | ENSP00000362183.3:p.Ser310Ala |
| ENST00000373093.4:c.928T>G | ENSP00000362185.4:p.Ser310Ala |
| XM_011541294.1:c.928T>G | XP_011539596.1:p.Ser310Ala |