Linked Data
dbSNP Id:
rs775909202
ExAC:
11:119212457 T / G
gnomAD v2:
11-119212457-T-G
gnomAD v4:
11-119341747-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341747T>G , CM000673.2:g.119341747T>G | GRCh38 |
| NC_000011.9:g.119212457T>G , CM000673.1:g.119212457T>G | GRCh37 |
| NC_000011.8:g.118717667T>G | NCBI36 |
| NG_012235.1:g.9927A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.1541A>C (MFRP) MANE Select | ENSP00000481824.1:p.Gln514Pro | |
| ENST00000360167.4:c.1187A>C (MFRP) | ENSP00000353291.4:p.Gln396Pro | |
| ENST00000449574.7:c.412A>C (MFRP) | ||
| ENST00000619721.5:c.1541A>C (MFRP) | ENSP00000481824.1:p.Gln514Pro | |
| NM_015645.4:c.-1096A>C (C1QTNF5) | NP_056460.1:n.-1096A>C | |
| NM_031433.3:c.1541A>C (MFRP) | NP_113621.1:p.Gln514Pro | |
| NM_031433.4:c.1541A>C (MFRP) MANE Select | NP_113621.1:p.Gln514Pro | |
| NM_015645.5:c.-1096A>C (C1QTNF5) | NP_056460.1:n.-1096A>C |