Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.19130981A>T , CM000675.2:g.19130981A>T | GRCh38 |
| NC_000013.10:g.19705121A>T , CM000675.1:g.19705121A>T | GRCh37 |
| NC_000013.9:g.18603121A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425713.1:n.493-311A>T |