Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220836763C>T , CM000663.2:g.220836763C>T | GRCh38 |
| NC_000001.10:g.221010105C>T , CM000663.1:g.221010105C>T | GRCh37 |
| NC_000001.9:g.219076728C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.842+31489C>T | ENSP00000499157.1:n.842+31489C>T | |
| NR_046901.1:n.293-3571G>A |