Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87259855T>A , CM000665.2:g.87259855T>A | GRCh38 |
| NC_000003.11:g.87309005T>A , CM000665.1:g.87309005T>A | GRCh37 |
| NC_000003.10:g.87391695T>A | NCBI36 |
| NG_008225.2:g.21733A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.*39A>T | ENSP00000342931.3:n.*39A>T | |
| ENST00000350375.7:c.*39A>T MANE Select | ENSP00000263781.2:n.*39A>T | |
| ENST00000344265.7:c.*39A>T | ENSP00000342931.3:n.*39A>T | |
| ENST00000350375.6:c.*39A>T | ENSP00000263781.2:n.*39A>T | |
| NM_000306.3:c.*39A>T | NP_000297.1:n.*39A>T | |
| NM_001122757.2:c.*39A>T | NP_001116229.1:n.*39A>T | |
| NM_000306.4:c.*39A>T MANE Select | NP_000297.1:n.*39A>T | |
| NM_001122757.3:c.*39A>T | NP_001116229.1:n.*39A>T |