Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359276G>T , CM000680.2:g.59359276G>T | GRCh38 |
| NC_000018.9:g.57026508G>T , CM000680.1:g.57026508G>T | GRCh37 |
| NC_000018.8:g.55177488G>T | NCBI36 |
| NG_012097.1:g.5001C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251047.5:c.-32C>A | ENSP00000251047.4:n.-32C>A | |
| NM_005570.3:c.-32C>A | NP_005561.1:n.-32C>A |