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