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