Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170814198C>A , CM000664.2:g.170814198C>A | GRCh38 |
| NC_000002.11:g.171670708C>A , CM000664.1:g.171670708C>A | GRCh37 |
| NC_000002.10:g.171378954C>A | NCBI36 |
| NG_021477.1:g.2509C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454603.5:c.-64+776C>A | ENSP00000402366.1:n.-64+776C>A | |
| XM_011510922.1:c.-64+776C>A | XP_011509224.1:n.-64+776C>A |