Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516242C= , CM000679.2:g.75516242C= | GRCh38 |
| NC_000017.10:g.73512323C= , CM000679.1:g.73512323C= | GRCh37 |
| NC_000017.9:g.71023918C= | NCBI36 |
| NG_013041.1:g.4715C= | |
| NG_033152.1:g.4342G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-227C= | ENSP00000406559.4:n.-227C= | |
| ENST00000679370.1:n.299C= | ||
| ENST00000434205.7:c.-227C= | ENSP00000406559.3:n.-227C= | |
| XM_006721821.2:c.-392C= | XP_006721884.1:n.-392C= |