Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345797G= , CM000665.2:g.50345797G= | GRCh38 |
| NC_000003.11:g.50383228G= , CM000665.1:g.50383228G= | GRCh37 |
| NC_000003.10:g.50358232G= | NCBI36 |
| NG_023270.1:g.140C= | |
| NG_042828.1:g.4950C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.7:c.-218C= | ENSP00000231749.3:n.-218C= | |
| XM_005265216.2:c.-346C= | XP_005265273.1:n.-346C= |