Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345799G>A , CM000665.2:g.50345799G>A | GRCh38 |
| NC_000003.11:g.50383230G>A , CM000665.1:g.50383230G>A | GRCh37 |
| NC_000003.10:g.50358234G>A | NCBI36 |
| NG_023270.1:g.138C>T | |
| NG_042828.1:g.4948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-220C>T | ENSP00000231749.3:n.-220C>T | |
| XM_005265216.2:c.-348C>T | XP_005265273.1:n.-348C>T |