Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170813611G>A , CM000664.2:g.170813611G>A | GRCh38 |
| NC_000002.11:g.171670121G>A , CM000664.1:g.171670121G>A | GRCh37 |
| NC_000002.10:g.171378367G>A | NCBI36 |
| NG_021477.1:g.1922G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000454603.5:c.-64+189G>A | ENSP00000402366.1:n.-64+189G>A |
| XM_011510922.1:c.-64+189G>A | XP_011509224.1:n.-64+189G>A |