Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170815885C>T , CM000664.2:g.170815885C>T | GRCh38 |
| NC_000002.11:g.171672395C>T , CM000664.1:g.171672395C>T | GRCh37 |
| NC_000002.10:g.171380641C>T | NCBI36 |
| NG_021477.1:g.4196C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000454603.5:c.-64+2463C>T | ENSP00000402366.1:n.-64+2463C>T |
| XM_011510922.1:c.-64+2463C>T | XP_011509224.1:n.-64+2463C>T |