Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148991343C>T , CM000665.2:g.148991343C>T | GRCh38 |
| NC_000003.11:g.148709130C>T , CM000665.1:g.148709130C>T | GRCh37 |
| NC_000003.10:g.150191820C>T | NCBI36 |
| NG_027677.1:g.4936C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000345003.8:c.-298C>T | ENSP00000340736.4:n.-298C>T |