Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38794018T>A , CM000665.2:g.38794018T>A | GRCh38 |
| NC_000003.11:g.38835509T>A , CM000665.1:g.38835509T>A | GRCh37 |
| NC_000003.10:g.38810513T>A | NCBI36 |
| NG_031891.2:g.4993A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006514.4:c.-8A>T MANE Select | NP_006505.4:n.-8A>T |
| ENST00000449082.3:c.-8A>T MANE Select | ENSP00000390600.2:n.-8A>T |
| ENST00000643924.1:c.-8A>T | ENSP00000495595.1:n.-8A>T |
| ENST00000655275.1:c.-8A>T | ENSP00000499510.1:n.-8A>T |