Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119344859T>C , CM000673.2:g.119344859T>C | GRCh38 |
| NC_000011.9:g.119215569T>C , CM000673.1:g.119215569T>C | GRCh37 |
| NC_000011.8:g.118720779T>C | NCBI36 |
| NG_012235.1:g.6815A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.772+15A>G (MFRP) MANE Select | NP_113621.1:n.772+15A>G |
| ENST00000619721.6:c.772+15A>G (MFRP) MANE Select | ENSP00000481824.1:n.772+15A>G |
| NM_015645.4:c.-1865+15A>G (C1QTNF5) | NP_056460.1:n.-1865+15A>G |
| NM_015645.5:c.-1865+15A>G (C1QTNF5) | NP_056460.1:n.-1865+15A>G |
| NM_031433.3:c.772+15A>G (MFRP) | NP_113621.1:n.772+15A>G |
| ENST00000360167.4:c.772+15A>G (MFRP) | ENSP00000353291.4:n.772+15A>G |
| ENST00000529147.2:n.735+15A>G (MFRP) | |
| ENST00000619721.5:c.772+15A>G (MFRP) | ENSP00000481824.1:n.772+15A>G |