Linked Data
ClinVar Variation Id:
1126228
ClinVar RCV Id:
RCV001458192
dbSNP Id:
rs376577382
ExAC:
5:137780988 C / T
gnomAD v2:
5-137780988-C-T
gnomAD v3:
5-138445299-C-T
gnomAD v4:
5-138445299-C-T
COSMIC:
COSM1433389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138445299C>T , CM000667.2:g.138445299C>T | GRCh38 |
| NC_000005.9:g.137780988C>T , CM000667.1:g.137780988C>T | GRCh37 |
| NC_000005.8:g.137808887C>T | NCBI36 |
| NG_033967.1:g.11299C>T | |
| NG_033967.2:g.11299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378339.7:c.489C>T MANE Select | ENSP00000367590.2:p.Asp163= | |
| ENST00000254901.9:c.483C>T | ENSP00000254901.5:p.Asp161= | |
| ENST00000378339.6:c.489C>T | ENSP00000367590.2:p.Asp163= | |
| ENST00000504163.1:n.302C>T | ||
| ENST00000506158.5:c.369C>T | ENSP00000422530.1:p.Asp123= | |
| ENST00000507511.5:c.*289C>T | ENSP00000424441.1:n.*289C>T | |
| ENST00000507635.5:n.394C>T | ||
| ENST00000613650.1:c.375C>T | ENSP00000479268.1:p.Asp125= | |
| NM_001271803.1:c.489C>T | NP_001258732.1:p.Asp163= | |
| NM_016606.3:c.483C>T | NP_057690.2:p.Asp161= | |
| NR_073448.1:n.766C>T | ||
| NR_073449.1:n.772C>T | ||
| NM_001271803.2:c.489C>T MANE Select | NP_001258732.1:p.Asp163= | |
| NM_016606.4:c.483C>T | NP_057690.2:p.Asp161= | |
| NR_073448.2:n.710C>T | ||
| NR_073449.2:n.716C>T |