Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041638T>C , CM000674.2:g.56041638T>C | GRCh38 |
| NC_000012.11:g.56435422T>C , CM000674.1:g.56435422T>C | GRCh37 |
| NC_000012.10:g.54721689T>C | NCBI36 |
| NG_023201.1:g.4737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-356-173T>C | ENSP00000348849.5:n.-356-173T>C | |
| XR_944989.1:n.75A>G | ||
| XR_944990.1:n.75A>G | ||
| XR_944989.3:n.366A>G | ||
| XR_944990.3:n.366A>G |