Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913294G>A , CM000674.2:g.110913294G>A | GRCh38 |
| NC_000012.11:g.111351098G>A , CM000674.1:g.111351098G>A | GRCh37 |
| NC_000012.10:g.109835481G>A | NCBI36 |
| NG_007554.1:g.12284C>T , LRG_393:g.12284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.305C>T MANE Select | ENSP00000228841.8:p.Ala102Val | |
| ENST00000663220.1:c.248C>T | ENSP00000499568.1:p.Ala83Val | |
| ENST00000228841.12:c.305C>T | ENSP00000228841.7:p.Ala102Val | |
| ENST00000548438.1:c.263C>T | ENSP00000447154.1:p.Ala88Val | |
| ENST00000549029.1:n.136C>T | ||
| NM_000432.3:c.305C>T , LRG_393t1:c.305C>T | NP_000423.2:p.Ala102Val | |
| NM_000432.4:c.305C>T MANE Select | NP_000423.2:p.Ala102Val |