Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29941939G>T , CM000668.2:g.29941939G>T | GRCh38 |
| NC_000006.11:g.29909716G>T , CM000668.1:g.29909716G>T | GRCh37 |
| NC_000006.10:g.30017695G>T | NCBI36 |
| NG_029217.2:g.4477G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396634.5:c.-281-27G>T | ENSP00000379873.1:n.-281-27G>T |