Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345748G>T , CM000665.2:g.50345748G>T | GRCh38 |
| NC_000003.11:g.50383179G>T , CM000665.1:g.50383179G>T | GRCh37 |
| NC_000003.10:g.50358183G>T | NCBI36 |
| NG_023270.1:g.189C>A | |
| NG_042828.1:g.4999C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-169C>A | ENSP00000231749.3:n.-169C>A | |
| XM_005265216.2:c.-297C>A | XP_005265273.1:n.-297C>A |