Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36859876A>T , CM000663.2:g.36859876A>T | GRCh38 |
| NC_000001.10:g.37325477A>T , CM000663.1:g.37325477A>T | GRCh37 |
| NC_000001.9:g.37098064A>T | NCBI36 |
| NG_011447.1:g.179368T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373091.8:c.928T>A MANE Select | ENSP00000362183.3:p.Ser310Thr | |
| ENST00000373091.7:c.928T>A | ENSP00000362183.3:p.Ser310Thr | |
| ENST00000373093.4:c.928T>A | ENSP00000362185.4:p.Ser310Thr | |
| NM_000831.3:c.928T>A | NP_000822.2:p.Ser310Thr | |
| XM_011541294.1:c.928T>A | XP_011539596.1:p.Ser310Thr | |
| NM_000831.4:c.928T>A MANE Select | NP_000822.2:p.Ser310Thr |