COSMIC:
COSM4145394 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22764186 (AFR)
Genomes Max Group AF
0.22448738 (AFR)
Exomes Max Group AF
0.22890317 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119345569G>A , CM000673.2:g.119345569G>A | GRCh38 |
| NC_000011.9:g.119216279G>A , CM000673.1:g.119216279G>A | GRCh37 |
| NC_000011.8:g.118721489G>A | NCBI36 |
| NG_012235.1:g.6105C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.492C>T (MFRP) MANE Select | ENSP00000481824.1:p.Tyr164= | |
| ENST00000360167.4:c.492C>T (MFRP) | ENSP00000353291.4:p.Tyr164= | |
| ENST00000529147.2:n.455C>T (MFRP) | ||
| ENST00000619721.5:c.492C>T (MFRP) | ENSP00000481824.1:p.Tyr164= | |
| ENST00000634542.1:c.*83C>T (MFRP) | ENSP00000488979.1:n.*83C>T | |
| NM_015645.4:c.-2145C>T (C1QTNF5) | NP_056460.1:n.-2145C>T | |
| NM_031433.3:c.492C>T (MFRP) | NP_113621.1:p.Tyr164= | |
| NM_031433.4:c.492C>T (MFRP) MANE Select | NP_113621.1:p.Tyr164= | |
| NM_015645.5:c.-2145C>T (C1QTNF5) | NP_056460.1:n.-2145C>T |