Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812304G>A , CM000669.2:g.155812304G>A | GRCh38 |
| NC_000007.13:g.155604998G>A , CM000669.1:g.155604998G>A | GRCh37 |
| NC_000007.12:g.155297759G>A | NCBI36 |
| NG_007504.2:g.4970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-182C>T MANE Select | ENSP00000297261.2:n.-182C>T | |
| NM_000193.4:c.-182C>T MANE Select | NP_000184.1:n.-182C>T |