Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165478853C>G , CM000663.2:g.165478853C>G | GRCh38 |
| NC_000001.10:g.165448090C>G , CM000663.1:g.165448090C>G | GRCh37 |
| NC_000001.9:g.163714714C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_026744.2:n.1530-1738G>C |