Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169736852G= , CM000663.2:g.169736852G= | GRCh38 |
| NC_000001.10:g.169705993G= , CM000663.1:g.169705993G= | GRCh37 |
| NC_000001.9:g.167972617G= | NCBI36 |
| NG_012124.1:g.2228C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498289.5:n.852-46959G= (FIRRM) | ||
| ENST00000609271.1:c.-201-2729C= (SELE) | ENSP00000476784.1:n.-201-2729C= |