Linked Data
ClinVar Variation Id:
183043
ClinVar RCV Id:
RCV000161912
dbSNP Id:
rs730882141
gnomAD v2:
11-119215049-G-T
gnomAD v4:
11-119344339-G-T
PubMed:
PMID:19753314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119344339G>T , CM000673.2:g.119344339G>T | GRCh38 |
| NC_000011.9:g.119215049G>T , CM000673.1:g.119215049G>T | GRCh37 |
| NC_000011.8:g.118720259G>T | NCBI36 |
| NG_012235.1:g.7335C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619721.6:c.951C>A (MFRP) MANE Select | ENSP00000481824.1:p.Tyr317Ter | |
| ENST00000360167.4:c.898+293C>A (MFRP) | ENSP00000353291.4:n.898+293C>A | |
| ENST00000619721.5:c.951C>A (MFRP) | ENSP00000481824.1:p.Tyr317Ter | |
| NM_015645.4:c.-1686C>A (C1QTNF5) | NP_056460.1:n.-1686C>A | |
| NM_031433.3:c.951C>A (MFRP) | NP_113621.1:p.Tyr317Ter | |
| NM_031433.4:c.951C>A (MFRP) MANE Select | NP_113621.1:p.Tyr317Ter | |
| NM_015645.5:c.-1686C>A (C1QTNF5) | NP_056460.1:n.-1686C>A |