Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87259841G>T , CM000665.2:g.87259841G>T | GRCh38 |
| NC_000003.11:g.87308991G>T , CM000665.1:g.87308991G>T | GRCh37 |
| NC_000003.10:g.87391681G>T | NCBI36 |
| NG_008225.2:g.21747C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.*53C>A | ENSP00000342931.3:n.*53C>A | |
| ENST00000350375.7:c.*53C>A MANE Select | ENSP00000263781.2:n.*53C>A | |
| ENST00000344265.7:c.*53C>A | ENSP00000342931.3:n.*53C>A | |
| ENST00000350375.6:c.*53C>A | ENSP00000263781.2:n.*53C>A | |
| NM_000306.3:c.*53C>A | NP_000297.1:n.*53C>A | |
| NM_001122757.2:c.*53C>A | NP_001116229.1:n.*53C>A | |
| NM_000306.4:c.*53C>A MANE Select | NP_000297.1:n.*53C>A | |
| NM_001122757.3:c.*53C>A | NP_001116229.1:n.*53C>A |