Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451230G>A , CM000665.2:g.52451230G>A | GRCh38 |
| NC_000003.11:g.52485246G>A , CM000665.1:g.52485246G>A | GRCh37 |
| NC_000003.10:g.52460286G>A | NCBI36 |
| NG_008963.1:g.7812C>T , LRG_378:g.7812C>T | |
| NG_033112.1:g.723G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*45C>T MANE Select | ENSP00000232975.3:n.*45C>T | |
| ENST00000232975.7:c.*45C>T | ENSP00000232975.3:n.*45C>T | |
| NM_003280.2:c.*45C>T , LRG_378t1:c.*45C>T | NP_003271.1:n.*45C>T | |
| NM_003280.3:c.*45C>T MANE Select | NP_003271.1:n.*45C>T |