Linked Data
ClinVar Variation Id:
8394
ClinVar RCV Id:
RCV000008902
dbSNP Id:
rs121909351
PubMed:
PMID:18629880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35434109G>T , CM000682.2:g.35434109G>T | GRCh38 |
| NC_000020.10:g.34021907G>T , CM000682.1:g.34021907G>T | GRCh37 |
| NC_000020.9:g.33485321G>T | NCBI36 |
| NG_008076.2:g.9111C>A | |
| NG_008076.3:g.25638C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.1306C>A (GDF5) MANE Select | ENSP00000363489.3:p.Pro436Thr | |
| ENST00000374369.7:c.1306C>A (GDF5) | ENSP00000363489.3:p.Pro436Thr | |
| ENST00000374372.1:c.1306C>A (GDF5) | ENSP00000363492.1:p.Pro436Thr | |
| ENST00000374375.1:c.-50G>T (GDF5-AS1) | ENSP00000363495.1:n.-50G>T | |
| NM_000557.4:c.1306C>A (GDF5) | NP_000548.2:p.Pro436Thr | |
| XM_011529075.1:c.1306C>A (GDF5) | XP_011527377.1:p.Pro436Thr | |
| XM_011529076.1:c.1306C>A (GDF5) | XP_011527378.1:p.Pro436Thr | |
| NM_001319138.1:c.1306C>A (GDF5) | NP_001306067.1:p.Pro436Thr | |
| NM_001355428.1:c.-50G>T (GDF5-AS1) | NP_001342357.1:n.-50G>T | |
| NM_000557.5:c.1306C>A (GDF5) MANE Select | NP_000548.2:p.Pro436Thr | |
| NM_001319138.2:c.1306C>A (GDF5) | NP_001306067.1:p.Pro436Thr | |
| NR_161326.1:n.393G>T (GDF5-AS1) |