Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208768A>T , CM000679.2:g.14208768A>T | GRCh38 |
| NC_000017.10:g.14112085A>T , CM000679.1:g.14112085A>T | GRCh37 |
| NC_000017.9:g.14052810A>T | NCBI36 |
| NG_008034.1:g.144367A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*270A>T | ENSP00000499396.1:n.*270A>T | |
| ENST00000670279.1:c.929-741A>T | ENSP00000499450.1:n.929-741A>T | |
| XR_933974.1:n.1032-741A>T |