Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169736997C= , CM000663.2:g.169736997C= | GRCh38 |
| NC_000001.10:g.169706138C= , CM000663.1:g.169706138C= | GRCh37 |
| NC_000001.9:g.167972762C= | NCBI36 |
| NG_012124.1:g.2083G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498289.5:n.852-46814C= (FIRRM) | ||
| ENST00000609271.1:c.-201-2874G= (SELE) | ENSP00000476784.1:n.-201-2874G= |