Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7869040G>A , CM000667.2:g.7869040G>A | GRCh38 |
| NC_000005.9:g.7869153G>A , CM000667.1:g.7869153G>A | GRCh37 |
| NC_000005.8:g.7922153G>A | NCBI36 |
| NG_008856.1:g.4937G>A | |
| NG_033101.1:g.4998C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000502509.5:n.499-6218G>A | |
| XM_011514044.1:c.-25-1730G>A | XP_011512346.1:n.-25-1730G>A |
| XM_024446064.1:c.-25-1730G>A | XP_024301832.1:n.-25-1730G>A |