Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7718803A>T , CM000686.2:g.7718803A>T | GRCh38 |
| NC_000024.9:g.7586844A>T , CM000686.1:g.7586844A>T | GRCh37 |
| NC_000024.8:g.7646844A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000455527.5:n.883+3053T>A | |
| ENST00000651261.1:n.299-5706T>A |