Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119344336C>T , CM000673.2:g.119344336C>T | GRCh38 |
| NC_000011.9:g.119215046C>T , CM000673.1:g.119215046C>T | GRCh37 |
| NC_000011.8:g.118720256C>T | NCBI36 |
| NG_012235.1:g.7338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.954G>A (MFRP) MANE Select | ENSP00000481824.1:p.Leu318= | |
| ENST00000360167.4:c.898+296G>A (MFRP) | ENSP00000353291.4:n.898+296G>A | |
| ENST00000619721.5:c.954G>A (MFRP) | ENSP00000481824.1:p.Leu318= | |
| NM_015645.4:c.-1683G>A (C1QTNF5) | NP_056460.1:n.-1683G>A | |
| NM_031433.3:c.954G>A (MFRP) | NP_113621.1:p.Leu318= | |
| NM_031433.4:c.954G>A (MFRP) MANE Select | NP_113621.1:p.Leu318= | |
| NM_015645.5:c.-1683G>A (C1QTNF5) | NP_056460.1:n.-1683G>A |