Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169736894C>G , CM000663.2:g.169736894C>G | GRCh38 |
| NC_000001.10:g.169706035C>G , CM000663.1:g.169706035C>G | GRCh37 |
| NC_000001.9:g.167972659C>G | NCBI36 |
| NG_012124.1:g.2186G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498289.5:n.852-46917C>G (FIRRM) | ||
| ENST00000609271.1:c.-201-2771G>C (SELE) | ENSP00000476784.1:n.-201-2771G>C |