Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.19648624T>A , CM000674.2:g.19648624T>A | GRCh38 |
| NC_000012.11:g.19801558T>A , CM000674.1:g.19801558T>A | GRCh37 |
| NC_000012.10:g.19692825T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512223.6:c.339-72009T>A | ENSP00000445587.1:n.339-72009T>A | |
| XR_242921.2:n.253-1772T>A | ||
| XR_931408.1:n.77-1772T>A | ||
| XR_001749034.2:n.472-1772T>A | ||
| XR_001749035.1:n.526-1772T>A | ||
| XR_001749036.1:n.526-1074T>A | ||
| XR_001749037.1:n.276-1772T>A | ||
| XR_002957408.1:n.134-1772T>A |