Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141607G>T , CM000665.2:g.10141607G>T | GRCh38 |
| NC_000003.11:g.10183291G>T , CM000665.1:g.10183291G>T | GRCh37 |
| NC_000003.10:g.10158291G>T | NCBI36 |
| NG_008212.3:g.4973G>T , LRG_322:g.4973G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256474.2:c.-241G>T | ENSP00000256474.2:n.-241G>T |