Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208681G>A , CM000679.2:g.14208681G>A | GRCh38 |
| NC_000017.10:g.14111998G>A , CM000679.1:g.14111998G>A | GRCh37 |
| NC_000017.9:g.14052723G>A | NCBI36 |
| NG_008034.1:g.144280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*183G>A | ENSP00000499396.1:n.*183G>A | |
| ENST00000670279.1:c.929-828G>A | ENSP00000499450.1:n.929-828G>A | |
| XR_933974.1:n.1032-828G>A |