Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51341370C>T , CM000674.2:g.51341370C>T | GRCh38 |
| NC_000012.11:g.51735154C>T , CM000674.1:g.51735154C>T | GRCh37 |
| NC_000012.10:g.50021421C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001971.6:c.337G>A MANE Select | NP_001962.3:p.Ala113Thr |
| ENST00000293636.2:c.337G>A MANE Select | ENSP00000293636.1:p.Ala113Thr |
| NM_001971.5:c.337G>A | NP_001962.3:p.Ala113Thr |
| ENST00000293636.1:c.337G>A | ENSP00000293636.1:p.Ala113Thr |