Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119344752A>T , CM000673.2:g.119344752A>T | GRCh38 |
| NC_000011.9:g.119215462A>T , CM000673.1:g.119215462A>T | GRCh37 |
| NC_000011.8:g.118720672A>T | NCBI36 |
| NG_012235.1:g.6922T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.778T>A (MFRP) MANE Select | NP_113621.1:p.Cys260Ser |
| ENST00000619721.6:c.778T>A (MFRP) MANE Select | ENSP00000481824.1:p.Cys260Ser |
| NM_015645.4:c.-1859T>A (C1QTNF5) | NP_056460.1:n.-1859T>A |
| NM_015645.5:c.-1859T>A (C1QTNF5) | NP_056460.1:n.-1859T>A |
| NM_031433.3:c.778T>A (MFRP) | NP_113621.1:p.Cys260Ser |
| ENST00000360167.4:c.778T>A (MFRP) | ENSP00000353291.4:p.Cys260Ser |
| ENST00000529147.2:n.741T>A (MFRP) | |
| ENST00000619721.5:c.778T>A (MFRP) | ENSP00000481824.1:p.Cys260Ser |