Linked Data
ClinVar Variation Id:
338320
ClinVar RCV Id:
RCV000299052
RCV000300078
RCV000357395
RCV000404947
RCV000391346
RCV000607716
RCV000863546
dbSNP Id:
rs149593773
ExAC:
20:34022358 G / A
gnomAD v2:
20-34022358-G-A
gnomAD v3:
20-35434560-G-A
gnomAD v4:
20-35434560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35434560G>A , CM000682.2:g.35434560G>A | GRCh38 |
| NC_000020.10:g.34022358G>A , CM000682.1:g.34022358G>A | GRCh37 |
| NC_000020.9:g.33485772G>A | NCBI36 |
| NG_008076.2:g.8660C>T | |
| NG_008076.3:g.25187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.855C>T (GDF5) MANE Select | ENSP00000363489.3:p.Gly285= | |
| ENST00000374369.7:c.855C>T (GDF5) | ENSP00000363489.3:p.Gly285= | |
| ENST00000374372.1:c.855C>T (GDF5) | ENSP00000363492.1:p.Gly285= | |
| ENST00000374375.1:c.402G>A (GDF5-AS1) | ENSP00000363495.1:p.Arg134= | |
| NM_000557.4:c.855C>T (GDF5) | NP_000548.2:p.Gly285= | |
| XM_011529075.1:c.855C>T (GDF5) | XP_011527377.1:p.Gly285= | |
| XM_011529076.1:c.855C>T (GDF5) | XP_011527378.1:p.Gly285= | |
| NM_001319138.1:c.855C>T (GDF5) | NP_001306067.1:p.Gly285= | |
| NM_001355428.1:c.402G>A (GDF5-AS1) | NP_001342357.1:p.Arg134= | |
| NM_000557.5:c.855C>T (GDF5) MANE Select | NP_000548.2:p.Gly285= | |
| NM_001319138.2:c.855C>T (GDF5) | NP_001306067.1:p.Gly285= | |
| NR_161326.1:n.844G>A (GDF5-AS1) |