Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118952044G>A , CM000670.2:g.118952044G>A | GRCh38 |
| NC_000008.10:g.119964283G>A , CM000670.1:g.119964283G>A | GRCh37 |
| NC_000008.9:g.120033464G>A | NCBI36 |
| NG_012202.1:g.5101C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002546.3:c.-223C>T | NP_002537.3:n.-223C>T |
| ENST00000297350.8:c.-223C>T | ENSP00000297350.4:n.-223C>T |