Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913107A>T , CM000674.2:g.110913107A>T | GRCh38 |
| NC_000012.11:g.111350911A>T , CM000674.1:g.111350911A>T | GRCh37 |
| NC_000012.10:g.109835294A>T | NCBI36 |
| NG_007554.1:g.12471T>A , LRG_393:g.12471T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.391T>A MANE Select | ENSP00000228841.8:p.Ser131Thr | |
| ENST00000663220.1:c.334T>A | ENSP00000499568.1:p.Ser112Thr | |
| ENST00000228841.12:c.391T>A | ENSP00000228841.7:p.Ser131Thr | |
| ENST00000548438.1:c.349T>A | ENSP00000447154.1:p.Ser117Thr | |
| NM_000432.3:c.391T>A , LRG_393t1:c.391T>A | NP_000423.2:p.Ser131Thr | |
| NM_000432.4:c.391T>A MANE Select | NP_000423.2:p.Ser131Thr |