Linked Data
ClinVar Variation Id:
8167
ClinVar RCV Id:
RCV000008645
dbSNP Id:
rs121909302
gnomAD v4:
5-41842690-C-T
PubMed:
PMID:10964512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41842690C>T , CM000667.2:g.41842690C>T | GRCh38 |
| NC_000005.9:g.41842792C>T , CM000667.1:g.41842792C>T | GRCh37 |
| NC_000005.8:g.41878549C>T | NCBI36 |
| NG_011823.1:g.33000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.656G>A MANE Select | ENSP00000196371.5:p.Gly219Glu | |
| ENST00000196371.9:c.656G>A | ENSP00000196371.5:p.Gly219Glu | |
| ENST00000509987.1:c.98G>A | ENSP00000425348.1:p.Gly33Glu | |
| ENST00000514723.1:n.68G>A | ||
| NM_000436.3:c.656G>A | NP_000427.1:p.Gly219Glu | |
| XR_427658.2:n.832G>A | ||
| NM_001364299.1:c.677G>A | NP_001351228.1:p.Gly226Glu | |
| NM_001364300.1:c.677G>A | NP_001351229.1:p.Gly226Glu | |
| NM_001364301.1:c.656G>A | NP_001351230.1:p.Gly219Glu | |
| NM_001364302.1:c.656G>A | NP_001351231.1:p.Gly219Glu | |
| NM_001364303.1:c.98G>A | NP_001351232.1:p.Gly33Glu | |
| NR_157114.1:n.723G>A | ||
| XR_001742081.2:n.833G>A | ||
| NM_000436.4:c.656G>A MANE Select | NP_000427.1:p.Gly219Glu | |
| NM_001364299.2:c.677G>A | NP_001351228.1:p.Gly226Glu | |
| NM_001364300.2:c.677G>A | NP_001351229.1:p.Gly226Glu | |
| NM_001364301.2:c.656G>A | NP_001351230.1:p.Gly219Glu | |
| NM_001364302.2:c.656G>A | NP_001351231.1:p.Gly219Glu | |
| NR_157114.2:n.723G>A | ||
| NM_001364303.2:c.98G>A | NP_001351232.1:p.Gly33Glu |