Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041529A>G , CM000674.2:g.56041529A>G | GRCh38 |
| NC_000012.11:g.56435313A>G , CM000674.1:g.56435313A>G | GRCh37 |
| NC_000012.10:g.54721580A>G | NCBI36 |
| NG_023201.1:g.4628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-357+133A>G | ENSP00000348849.5:n.-357+133A>G | |
| XR_944989.1:n.184T>C | ||
| XR_944990.1:n.184T>C | ||
| XR_944989.3:n.475T>C | ||
| XR_944990.3:n.475T>C |