Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102725332C>G , CM000673.2:g.102725332C>G | GRCh38 |
| NC_000011.9:g.102596063C>G , CM000673.1:g.102596063C>G | GRCh37 |
| NC_000011.8:g.102101273C>G | NCBI36 |
| NG_012101.1:g.4623G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528662.6:c.-148-329G>C | ENSP00000431431.2:n.-148-329G>C |