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