Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79976225A>C , CM000672.2:g.79976225A>C | GRCh38 |
| NC_000010.10:g.81735981A>C , CM000672.1:g.81735981A>C | GRCh37 |
| NC_000010.9:g.81725961A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000444384.3:c.36+6350T>G | ENSP00000394325.1:n.36+6350T>G |
| XM_011540087.1:c.-4+5993T>G | XP_011538389.1:n.-4+5993T>G |