Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141627T>G , CM000665.2:g.10141627T>G | GRCh38 |
| NC_000003.11:g.10183311T>G , CM000665.1:g.10183311T>G | GRCh37 |
| NC_000003.10:g.10158311T>G | NCBI36 |
| NG_008212.3:g.4993T>G , LRG_322:g.4993T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256474.2:c.-221T>G | ENSP00000256474.2:n.-221T>G |