Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110919138A>T , CM000674.2:g.110919138A>T | GRCh38 |
| NC_000012.11:g.111356942A>T , CM000674.1:g.111356942A>T | GRCh37 |
| NC_000012.10:g.109841325A>T | NCBI36 |
| NG_007554.1:g.6440T>A , LRG_393:g.6440T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.59T>A MANE Select | ENSP00000228841.8:p.Met20Lys | |
| ENST00000663220.1:c.2T>A | ENSP00000499568.1:p.Met1Lys | |
| ENST00000228841.12:c.59T>A | ENSP00000228841.7:p.Met20Lys | |
| ENST00000546404.1:n.252T>A | ||
| ENST00000548438.1:c.59T>A | ENSP00000447154.1:p.Met20Lys | |
| NM_000432.3:c.59T>A , LRG_393t1:c.59T>A | NP_000423.2:p.Met20Lys | |
| NM_000432.4:c.59T>A MANE Select | NP_000423.2:p.Met20Lys |