Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911110C>T , CM000674.2:g.110911110C>T | GRCh38 |
| NC_000012.11:g.111348914C>T , CM000674.1:g.111348914C>T | GRCh37 |
| NC_000012.10:g.109833297C>T | NCBI36 |
| NG_007554.1:g.14468G>A , LRG_393:g.14468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.468G>A MANE Select | ENSP00000228841.8:p.Val156= | |
| ENST00000663220.1:c.411G>A | ENSP00000499568.1:p.Val137= | |
| ENST00000228841.12:c.468G>A | ENSP00000228841.7:p.Val156= | |
| ENST00000548438.1:c.426G>A | ENSP00000447154.1:p.Val142= | |
| NM_000432.3:c.468G>A , LRG_393t1:c.468G>A | NP_000423.2:p.Val156= | |
| NM_000432.4:c.468G>A MANE Select | NP_000423.2:p.Val156= |