Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170813431T>C , CM000664.2:g.170813431T>C | GRCh38 |
| NC_000002.11:g.171669941T>C , CM000664.1:g.171669941T>C | GRCh37 |
| NC_000002.10:g.171378187T>C | NCBI36 |
| NG_021477.1:g.1742T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454603.5:c.-64+9T>C | ENSP00000402366.1:n.-64+9T>C | |
| XM_011510922.1:c.-64+9T>C | XP_011509224.1:n.-64+9T>C |