Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119343926G>T , CM000673.2:g.119343926G>T | GRCh38 |
| NC_000011.9:g.119214636G>T , CM000673.1:g.119214636G>T | GRCh37 |
| NC_000011.8:g.118719846G>T | NCBI36 |
| NG_012235.1:g.7748C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031433.4:c.1014C>A (MFRP) MANE Select | NP_113621.1:p.Ser338Arg |
| ENST00000619721.6:c.1014C>A (MFRP) MANE Select | ENSP00000481824.1:p.Ser338Arg |
| NM_015645.4:c.-1623C>A (C1QTNF5) | NP_056460.1:n.-1623C>A |
| NM_015645.5:c.-1623C>A (C1QTNF5) | NP_056460.1:n.-1623C>A |
| NM_031433.3:c.1014C>A (MFRP) | NP_113621.1:p.Ser338Arg |
| ENST00000360167.4:c.898+706C>A (MFRP) | ENSP00000353291.4:n.898+706C>A |
| ENST00000619721.5:c.1014C>A (MFRP) | ENSP00000481824.1:p.Ser338Arg |