Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878495G= , CM000663.2:g.220878495G= | GRCh38 |
| NC_000001.10:g.221051837G= , CM000663.1:g.221051837G= | GRCh37 |
| NC_000001.9:g.219118460G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2699G= | ENSP00000499157.1:n.843-2699G= | |
| NR_046901.1:n.292+1354C= | ||
| XM_011510307.1:c.564C= | XP_011508609.1:p.Phe188= |