Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66239680T>C , CM000679.2:g.66239680T>C | GRCh38 |
| NC_000017.10:g.64235798T>C , CM000679.1:g.64235798T>C | GRCh37 |
| NC_000017.9:g.61666260T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000577982.1:c.-43-10258A>G | ENSP00000464301.1:n.-43-10258A>G |