Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.184099374C>T , CM000663.2:g.184099374C>T | GRCh38 |
| NC_000001.10:g.184068508C>T , CM000663.1:g.184068508C>T | GRCh37 |
| NC_000001.9:g.182335131C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000643916.1:c.*116-13491C>T | ENSP00000494533.1:n.*116-13491C>T |
| ENST00000644592.1:c.354-20346C>T | ENSP00000495621.1:n.354-20346C>T |