Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341897A>T , CM000673.2:g.119341897A>T | GRCh38 |
| NC_000011.9:g.119212607A>T , CM000673.1:g.119212607A>T | GRCh37 |
| NC_000011.8:g.118717817A>T | NCBI36 |
| NG_012235.1:g.9777T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.1475T>A (MFRP) MANE Select | NP_113621.1:p.Ile492Asn |
| ENST00000619721.6:c.1475T>A (MFRP) MANE Select | ENSP00000481824.1:p.Ile492Asn |
| NM_015645.4:c.-1162T>A (C1QTNF5) | NP_056460.1:n.-1162T>A |
| NM_015645.5:c.-1162T>A (C1QTNF5) | NP_056460.1:n.-1162T>A |
| NM_031433.3:c.1475T>A (MFRP) | NP_113621.1:p.Ile492Asn |
| ENST00000360167.4:c.1162-125T>A (MFRP) | ENSP00000353291.4:n.1162-125T>A |
| ENST00000449574.7:c.346T>A (MFRP) | |
| ENST00000619721.5:c.1475T>A (MFRP) | ENSP00000481824.1:p.Ile492Asn |