Linked Data
dbSNP Id:
rs764469458
ExAC:
11:119212461 A / G
gnomAD v2:
11-119212461-A-G
gnomAD v4:
11-119341751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341751A>G , CM000673.2:g.119341751A>G | GRCh38 |
| NC_000011.9:g.119212461A>G , CM000673.1:g.119212461A>G | GRCh37 |
| NC_000011.8:g.118717671A>G | NCBI36 |
| NG_012235.1:g.9923T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.1537T>C (MFRP) MANE Select | ENSP00000481824.1:p.Tyr513His | |
| ENST00000360167.4:c.1183T>C (MFRP) | ENSP00000353291.4:p.Tyr395His | |
| ENST00000449574.7:c.408T>C (MFRP) | ||
| ENST00000619721.5:c.1537T>C (MFRP) | ENSP00000481824.1:p.Tyr513His | |
| NM_015645.4:c.-1100T>C (C1QTNF5) | NP_056460.1:n.-1100T>C | |
| NM_031433.3:c.1537T>C (MFRP) | NP_113621.1:p.Tyr513His | |
| NM_031433.4:c.1537T>C (MFRP) MANE Select | NP_113621.1:p.Tyr513His | |
| NM_015645.5:c.-1100T>C (C1QTNF5) | NP_056460.1:n.-1100T>C |