Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12580337A>T , CM000686.2:g.12580337A>T | GRCh38 |
| NC_000024.9:g.14692271A>T , CM000686.1:g.14692271A>T | GRCh37 |
| NC_000024.8:g.13202291A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457658.6:n.653+34087A>T |