Linked Data
ClinVar Variation Id:
8166
dbSNP Id:
rs121909301
ExAC:
5:41803250 C / T
gnomAD v2:
5-41803250-C-T
gnomAD v3:
5-41803148-C-T
gnomAD v4:
5-41803148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41803148C>T , CM000667.2:g.41803148C>T | GRCh38 |
| NC_000005.9:g.41803250C>T , CM000667.1:g.41803250C>T | GRCh37 |
| NC_000005.8:g.41839007C>T | NCBI36 |
| NG_011823.1:g.72542G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000196371.10:c.971G>A MANE Select | ENSP00000196371.5:p.Gly324Glu | |
| ENST00000196371.9:c.971G>A | ENSP00000196371.5:p.Gly324Glu | |
| ENST00000509987.1:c.413G>A | ENSP00000425348.1:p.Gly138Glu | |
| ENST00000514723.1:n.144+37303G>A | ||
| NM_000436.3:c.971G>A | NP_000427.1:p.Gly324Glu | |
| XR_427658.2:n.1147G>A | ||
| NM_001364299.1:c.992G>A | NP_001351228.1:p.Gly331Glu | |
| NM_001364300.1:c.992G>A | NP_001351229.1:p.Gly331Glu | |
| NM_001364301.1:c.965G>A | NP_001351230.1:p.Gly322Glu | |
| NM_001364302.1:c.971G>A | NP_001351231.1:p.Gly324Glu | |
| NM_001364303.1:c.413G>A | NP_001351232.1:p.Gly138Glu | |
| NR_157114.1:n.1038G>A | ||
| XR_001742081.2:n.1148G>A | ||
| NM_000436.4:c.971G>A MANE Select | NP_000427.1:p.Gly324Glu | |
| NM_001364299.2:c.992G>A | NP_001351228.1:p.Gly331Glu | |
| NM_001364300.2:c.992G>A | NP_001351229.1:p.Gly331Glu | |
| NM_001364301.2:c.965G>A | NP_001351230.1:p.Gly322Glu | |
| NM_001364302.2:c.971G>A | NP_001351231.1:p.Gly324Glu | |
| NR_157114.2:n.1038G>A | ||
| NM_001364303.2:c.413G>A | NP_001351232.1:p.Gly138Glu |