Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38790903A>T , CM000666.2:g.38790903A>T | GRCh38 |
| NC_000004.11:g.38792524A>T , CM000666.1:g.38792524A>T | GRCh37 |
| NC_000004.10:g.38468919A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505744.5:n.564T>A | ||
| ENST00000510552.1:n.426T>A | ||
| XR_925162.1:n.4898T>A | ||
| XR_925165.1:n.3064T>A |