Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812279C>T , CM000669.2:g.155812279C>T | GRCh38 |
| NC_000007.13:g.155604973C>T , CM000669.1:g.155604973C>T | GRCh37 |
| NC_000007.12:g.155297734C>T | NCBI36 |
| NG_007504.2:g.4995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-157G>A MANE Select | ENSP00000297261.2:n.-157G>A | |
| NM_000193.4:c.-157G>A MANE Select | NP_000184.1:n.-157G>A |