Linked Data
ClinVar Variation Id:
8393
ClinVar RCV Id:
RCV000008901
dbSNP Id:
rs121909350
ExAC:
20:34022080 C / T
gnomAD v2:
20-34022080-C-T
gnomAD v3:
20-35434282-C-T
gnomAD v4:
20-35434282-C-T
PubMed:
PMID:18629880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35434282C>T , CM000682.2:g.35434282C>T | GRCh38 |
| NC_000020.10:g.34022080C>T , CM000682.1:g.34022080C>T | GRCh37 |
| NC_000020.9:g.33485494C>T | NCBI36 |
| NG_008076.2:g.8938G>A | |
| NG_008076.3:g.25465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.1133G>A (GDF5) MANE Select | ENSP00000363489.3:p.Arg378Gln | |
| ENST00000374369.7:c.1133G>A (GDF5) | ENSP00000363489.3:p.Arg378Gln | |
| ENST00000374372.1:c.1133G>A (GDF5) | ENSP00000363492.1:p.Arg378Gln | |
| ENST00000374375.1:c.124C>T (GDF5-AS1) | ENSP00000363495.1:p.Arg42Cys | |
| NM_000557.4:c.1133G>A (GDF5) | NP_000548.2:p.Arg378Gln | |
| XM_011529075.1:c.1133G>A (GDF5) | XP_011527377.1:p.Arg378Gln | |
| XM_011529076.1:c.1133G>A (GDF5) | XP_011527378.1:p.Arg378Gln | |
| NM_001319138.1:c.1133G>A (GDF5) | NP_001306067.1:p.Arg378Gln | |
| NM_001355428.1:c.124C>T (GDF5-AS1) | NP_001342357.1:p.Arg42Cys | |
| NM_000557.5:c.1133G>A (GDF5) MANE Select | NP_000548.2:p.Arg378Gln | |
| NM_001319138.2:c.1133G>A (GDF5) | NP_001306067.1:p.Arg378Gln | |
| NR_161326.1:n.566C>T (GDF5-AS1) |