Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8248105C>T , CM000679.2:g.8248105C>T | GRCh38 |
| NC_000017.10:g.8151423C>T , CM000679.1:g.8151423C>T | GRCh37 |
| NC_000017.9:g.8092148C>T | NCBI36 |
| NG_032148.1:g.4991G>A | |
| NG_032148.2:g.4991G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000585183.5:c.-80+249C>T | ENSP00000463362.1:n.-80+249C>T |
| XM_024450804.1:c.-80+249C>T | XP_024306572.1:n.-80+249C>T |