Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54525026C>A , CM000670.2:g.54525026C>A | GRCh38 |
| NC_000008.10:g.55437586C>A , CM000670.1:g.55437586C>A | GRCh37 |
| NC_000008.9:g.55600139C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646684.1:n.128-7670C>A | ||
| XM_017013721.1:c.-1189-7670C>A | XP_016869210.1:n.-1189-7670C>A |