Linked Data
ClinVar Variation Id:
1316081
ClinVar RCV Id:
RCV001757528
dbSNP Id:
rs780647523
ExAC:
5:90050941 A / T
gnomAD v3:
5-90755124-A-T
gnomAD v4:
5-90755124-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90755124A>T , CM000667.2:g.90755124A>T | GRCh38 |
| NC_000005.9:g.90050941A>T , CM000667.1:g.90050941A>T | GRCh37 |
| NC_000005.8:g.90086697A>T | NCBI36 |
| NG_007083.1:g.201325A>T | |
| NG_007083.2:g.230781A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.11519A>T MANE Select | ENSP00000384582.2:p.Glu3840Val | |
| ENST00000425867.3:c.650A>T | ENSP00000392618.3:p.Glu217Val | |
| ENST00000639431.1:c.265+78915A>T | ENSP00000491057.1:n.265+78915A>T | |
| ENST00000640374.1:n.4663A>T | ||
| ENST00000640464.1:n.1938A>T | ||
| ENST00000405460.6:c.11519A>T | ENSP00000384582.2:p.Glu3840Val | |
| ENST00000509621.1:c.4216A>T | ||
| NM_032119.3:c.11519A>T | NP_115495.3:p.Glu3840Val | |
| NR_003149.1:n.11532A>T | ||
| XM_011543675.1:c.11516A>T | XP_011541977.1:p.Glu3839Val | |
| XM_011543676.1:c.11438A>T | XP_011541978.1:p.Glu3813Val | |
| XM_011543677.1:c.8822A>T | XP_011541979.1:p.Glu2941Val | |
| XM_011543678.1:c.11519A>T | XP_011541980.1:p.Glu3840Val | |
| NM_032119.4:c.11519A>T MANE Select | NP_115495.3:p.Glu3840Val | |
| XM_017009963.2:c.11540A>T | XP_016865452.1:p.Glu3847Val | |
| XM_017009964.2:c.11537A>T | XP_016865453.1:p.Glu3846Val | |
| XM_017009965.1:c.11537A>T | XP_016865454.1:p.Glu3846Val | |
| XM_017009966.2:c.11459A>T | XP_016865455.1:p.Glu3820Val | |
| XM_017009967.1:c.11444A>T | XP_016865456.1:p.Glu3815Val | |
| XM_017009968.2:c.11540A>T | XP_016865457.1:p.Glu3847Val | |
| XM_017009969.2:c.11540A>T | XP_016865458.1:p.Glu3847Val | |
| XM_017009970.2:c.11540A>T | XP_016865459.1:p.Glu3847Val | |
| XM_017009971.2:c.11540A>T | XP_016865460.1:p.Glu3847Val | |
| XM_017009972.1:c.4658A>T | XP_016865461.1:p.Glu1553Val | |
| XM_017009973.1:c.4637A>T | XP_016865462.1:p.Glu1546Val | |
| NR_003149.2:n.11535A>T |