Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80011317C= , CM000669.2:g.80011317C= | GRCh38 |
| NC_000007.13:g.79640633C= , CM000669.1:g.79640633C= | GRCh37 |
| NC_000007.12:g.79478569C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649225.1:c.-337+54251C= | ENSP00000496829.1:n.-337+54251C= |