Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52453993G>T , CM000665.2:g.52453993G>T | GRCh38 |
| NC_000003.11:g.52488009G>T , CM000665.1:g.52488009G>T | GRCh37 |
| NC_000003.10:g.52463049G>T | NCBI36 |
| NG_008963.1:g.5049C>A , LRG_378:g.5049C>A | |
| NG_033112.1:g.3486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.23C>A MANE Select | ENSP00000232975.3:p.Ala8Glu | |
| ENST00000232975.7:c.23C>A | ENSP00000232975.3:p.Ala8Glu | |
| NM_003280.2:c.23C>A , LRG_378t1:c.23C>A | NP_003271.1:p.Ala8Glu | |
| NM_003280.3:c.23C>A MANE Select | NP_003271.1:p.Ala8Glu |