Linked Data
ClinVar Variation Id:
8392
ClinVar RCV Id:
RCV000008900
dbSNP Id:
rs121909349
PubMed:
PMID:18283415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35434297A>C , CM000682.2:g.35434297A>C | GRCh38 |
| NC_000020.10:g.34022095A>C , CM000682.1:g.34022095A>C | GRCh37 |
| NC_000020.9:g.33485509A>C | NCBI36 |
| NG_008076.2:g.8923T>G | |
| NG_008076.3:g.25450T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.1118T>G (GDF5) MANE Select | ENSP00000363489.3:p.Leu373Arg | |
| ENST00000374369.7:c.1118T>G (GDF5) | ENSP00000363489.3:p.Leu373Arg | |
| ENST00000374372.1:c.1118T>G (GDF5) | ENSP00000363492.1:p.Leu373Arg | |
| ENST00000374375.1:c.139A>C (GDF5-AS1) | ENSP00000363495.1:p.Arg47= | |
| NM_000557.4:c.1118T>G (GDF5) | NP_000548.2:p.Leu373Arg | |
| XM_011529075.1:c.1118T>G (GDF5) | XP_011527377.1:p.Leu373Arg | |
| XM_011529076.1:c.1118T>G (GDF5) | XP_011527378.1:p.Leu373Arg | |
| NM_001319138.1:c.1118T>G (GDF5) | NP_001306067.1:p.Leu373Arg | |
| NM_001355428.1:c.139A>C (GDF5-AS1) | NP_001342357.1:p.Arg47= | |
| NM_000557.5:c.1118T>G (GDF5) MANE Select | NP_000548.2:p.Leu373Arg | |
| NM_001319138.2:c.1118T>G (GDF5) | NP_001306067.1:p.Leu373Arg | |
| NR_161326.1:n.581A>C (GDF5-AS1) |