Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66240200T>A , CM000679.2:g.66240200T>A | GRCh38 |
| NC_000017.10:g.64236318T>A , CM000679.1:g.64236318T>A | GRCh37 |
| NC_000017.9:g.61666780T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577982.1:c.-43-10778A>T | ENSP00000464301.1:n.-43-10778A>T |