Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54527508C= , CM000670.2:g.54527508C= | GRCh38 |
| NC_000008.10:g.55440068C= , CM000670.1:g.55440068C= | GRCh37 |
| NC_000008.9:g.55602621C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000646684.1:n.128-5188C= | |
| XM_017013721.1:c.-1189-5188C= | XP_016869210.1:n.-1189-5188C= |