Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110919160C>T , CM000674.2:g.110919160C>T | GRCh38 |
| NC_000012.11:g.111356964C>T , CM000674.1:g.111356964C>T | GRCh37 |
| NC_000012.10:g.109841347C>T | NCBI36 |
| NG_007554.1:g.6418G>A , LRG_393:g.6418G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.37G>A MANE Select | NP_000423.2:p.Ala13Thr |
| ENST00000228841.15:c.37G>A MANE Select | ENSP00000228841.8:p.Ala13Thr |
| NM_000432.3:c.37G>A , LRG_393t1:c.37G>A | NP_000423.2:p.Ala13Thr |
| ENST00000228841.12:c.37G>A | ENSP00000228841.7:p.Ala13Thr |
| ENST00000546404.1:n.230G>A | |
| ENST00000548438.1:c.37G>A | ENSP00000447154.1:p.Ala13Thr |
| ENST00000663220.1:c.-21G>A | ENSP00000499568.1:n.-21G>A |