Linked Data
ClinVar Variation Id:
183960
ClinVar RCV Id:
RCV001804891
dbSNP Id:
rs149201802
ExAC:
5:131930642 C / T
gnomAD v2:
5-131930642-C-T
gnomAD v3:
5-132594950-C-T
gnomAD v4:
5-132594950-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594950C>T , CM000667.2:g.132594950C>T | GRCh38 |
| NC_000005.9:g.131930642C>T , CM000667.1:g.131930642C>T | GRCh37 |
| NC_000005.8:g.131958541C>T | NCBI36 |
| NG_021151.1:g.43027C>T | |
| NG_021151.2:g.42974C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1875C>T MANE Select | ENSP00000368100.4:p.Tyr625= | |
| ENST00000638452.2:c.1578C>T | ENSP00000492349.2:p.Tyr526= | |
| ENST00000638504.1:n.1480-154C>T | ||
| ENST00000638568.2:c.1578C>T | ENSP00000491158.2:p.Tyr526= | |
| ENST00000639899.1:n.2394C>T | ||
| ENST00000640655.2:c.1578C>T | ENSP00000491596.2:p.Tyr526= | |
| ENST00000651160.1:c.*16-154C>T | ENSP00000498829.1:n.*16-154C>T | |
| ENST00000651658.1:n.2418C>T | ||
| ENST00000651723.1:c.*1958C>T | ENSP00000498237.1:n.*1958C>T | |
| ENST00000652016.1:c.*89-154C>T | ENSP00000498267.1:n.*89-154C>T | |
| ENST00000652485.1:c.1908C>T | ENSP00000498973.1:p.Tyr636= | |
| ENST00000378823.7:c.1875C>T | ENSP00000368100.4:p.Tyr625= | |
| ENST00000423956.5:c.*61C>T | ENSP00000390971.1:n.*61C>T | |
| ENST00000453394.5:c.1692C>T | ENSP00000400049.1:p.Tyr564= | |
| ENST00000533482.5:c.*1501C>T | ENSP00000431225.1:n.*1501C>T | |
| NM_005732.3:c.1875C>T | NP_005723.2:p.Tyr625= | |
| NM_005732.4:c.1875C>T MANE Select | NP_005723.2:p.Tyr625= |