Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341742A>C , CM000673.2:g.119341742A>C | GRCh38 |
| NC_000011.9:g.119212452A>C , CM000673.1:g.119212452A>C | GRCh37 |
| NC_000011.8:g.118717662A>C | NCBI36 |
| NG_012235.1:g.9932T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.1546T>G (MFRP) MANE Select | ENSP00000481824.1:p.Phe516Val | |
| ENST00000360167.4:c.1192T>G (MFRP) | ENSP00000353291.4:p.Phe398Val | |
| ENST00000449574.7:c.417T>G (MFRP) | ||
| ENST00000619721.5:c.1546T>G (MFRP) | ENSP00000481824.1:p.Phe516Val | |
| NM_015645.4:c.-1091T>G (C1QTNF5) | NP_056460.1:n.-1091T>G | |
| NM_031433.3:c.1546T>G (MFRP) | NP_113621.1:p.Phe516Val | |
| NM_031433.4:c.1546T>G (MFRP) MANE Select | NP_113621.1:p.Phe516Val | |
| NM_015645.5:c.-1091T>G (C1QTNF5) | NP_056460.1:n.-1091T>G |