Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139530730G>A , CM000685.2:g.139530730G>A | GRCh38 |
| NC_000023.10:g.138612889G>A , CM000685.1:g.138612889G>A | GRCh37 |
| NC_000023.9:g.138440555G>A | NCBI36 |
| NG_007994.1:g.4995G>A , LRG_556:g.4995G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_005262397.4:c.-35G>A | XP_005262454.1:n.-35G>A |