Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687436T>A , CM000671.2:g.136687436T>A | GRCh38 |
| NC_000009.11:g.139581888T>A , CM000671.1:g.139581888T>A | GRCh37 |
| NC_000009.10:g.138701709T>A | NCBI36 |
| NG_008090.1:g.5024A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.-79A>T MANE Select | ENSP00000360761.2:n.-79A>T | |
| NM_001012727.1:c.-79A>T | NP_001012745.1:n.-79A>T | |
| NM_006412.3:c.-79A>T | NP_006403.2:n.-79A>T | |
| NM_006412.4:c.-79A>T MANE Select | NP_006403.2:n.-79A>T | |
| NM_001012727.2:c.-79A>T | NP_001012745.1:n.-79A>T |