Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345787A>G , CM000665.2:g.50345787A>G | GRCh38 |
| NC_000003.11:g.50383218A>G , CM000665.1:g.50383218A>G | GRCh37 |
| NC_000003.10:g.50358222A>G | NCBI36 |
| NG_023270.1:g.150T>C | |
| NG_042828.1:g.4960T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-208T>C | ENSP00000231749.3:n.-208T>C | |
| XM_005265216.2:c.-336T>C | XP_005265273.1:n.-336T>C |