Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63511904T>A , CM000679.2:g.63511904T>A | GRCh38 |
| NC_000017.10:g.61589265T>A , CM000679.1:g.61589265T>A | GRCh37 |
| NC_000017.9:g.58942997T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000423435.2:n.1288+1072T>A | |
| ENST00000577647.2:c.*1343+1072T>A | ENSP00000464149.1:n.*1343+1072T>A |