Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117068016A>G , CM000672.2:g.117068016A>G | GRCh38 |
| NC_000010.10:g.118827527A>G , CM000672.1:g.118827527A>G | GRCh37 |
| NC_000010.9:g.118817517A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392901.10:c.-188-19506T>C | ENSP00000376635.4:n.-188-19506T>C | |
| ENST00000392901.8:c.-188-19506T>C | ENSP00000376635.4:n.-188-19506T>C | |
| NM_001258300.1:c.-188-19506T>C | NP_001245229.1:n.-188-19506T>C |