Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341746C= , CM000673.2:g.119341746C= | GRCh38 |
| NC_000011.9:g.119212456C= , CM000673.1:g.119212456C= | GRCh37 |
| NC_000011.8:g.118717666C= | NCBI36 |
| NG_012235.1:g.9928G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.1542G= (MFRP) MANE Select | ENSP00000481824.1:p.Gln514= | |
| ENST00000360167.4:c.1188G= (MFRP) | ENSP00000353291.4:p.Gln396= | |
| ENST00000449574.7:c.413G= (MFRP) | ||
| ENST00000619721.5:c.1542G= (MFRP) | ENSP00000481824.1:p.Gln514= | |
| NM_015645.4:c.-1095G= (C1QTNF5) | NP_056460.1:n.-1095G= | |
| NM_031433.3:c.1542G= (MFRP) | NP_113621.1:p.Gln514= | |
| NM_031433.4:c.1542G= (MFRP) MANE Select | NP_113621.1:p.Gln514= | |
| NM_015645.5:c.-1095G= (C1QTNF5) | NP_056460.1:n.-1095G= |