Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119343928T>G , CM000673.2:g.119343928T>G | GRCh38 |
| NC_000011.9:g.119214638T>G , CM000673.1:g.119214638T>G | GRCh37 |
| NC_000011.8:g.118719848T>G | NCBI36 |
| NG_012235.1:g.7746A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.1012A>C (MFRP) MANE Select | NP_113621.1:p.Ser338Arg |
| ENST00000619721.6:c.1012A>C (MFRP) MANE Select | ENSP00000481824.1:p.Ser338Arg |
| NM_015645.4:c.-1625A>C (C1QTNF5) | NP_056460.1:n.-1625A>C |
| NM_015645.5:c.-1625A>C (C1QTNF5) | NP_056460.1:n.-1625A>C |
| NM_031433.3:c.1012A>C (MFRP) | NP_113621.1:p.Ser338Arg |
| ENST00000360167.4:c.898+704A>C (MFRP) | ENSP00000353291.4:n.898+704A>C |
| ENST00000619721.5:c.1012A>C (MFRP) | ENSP00000481824.1:p.Ser338Arg |