Linked Data
ClinVar Variation Id:
3003384
ClinVar RCV Id:
RCV003867999
dbSNP Id:
rs1394209489
gnomAD v2:
5-90059148-C-T
gnomAD v4:
5-90763331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90763331C>T , CM000667.2:g.90763331C>T | GRCh38 |
| NC_000005.9:g.90059148C>T , CM000667.1:g.90059148C>T | GRCh37 |
| NC_000005.8:g.90094904C>T | NCBI36 |
| NG_007083.1:g.209532C>T | |
| NG_007083.2:g.238988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12147C>T MANE Select | ENSP00000384582.2:p.Ser4049= | |
| ENST00000425867.3:c.1101C>T | ENSP00000392618.3:p.Ser367= | |
| ENST00000639431.1:c.265+87122C>T | ENSP00000491057.1:n.265+87122C>T | |
| ENST00000640464.1:n.2566C>T | ||
| ENST00000640729.1:n.724C>T | ||
| ENST00000405460.6:c.12147C>T | ENSP00000384582.2:p.Ser4049= | |
| NM_032119.3:c.12147C>T | NP_115495.3:p.Ser4049= | |
| NR_003149.1:n.12160C>T | ||
| XM_011543675.1:c.12144C>T | XP_011541977.1:p.Ser4048= | |
| XM_011543676.1:c.12066C>T | XP_011541978.1:p.Ser4022= | |
| XM_011543677.1:c.9450C>T | XP_011541979.1:p.Ser3150= | |
| XM_011543678.1:c.12147C>T | XP_011541980.1:p.Ser4049= | |
| NM_032119.4:c.12147C>T MANE Select | NP_115495.3:p.Ser4049= | |
| XM_017009963.2:c.12168C>T | XP_016865452.1:p.Ser4056= | |
| XM_017009964.2:c.12165C>T | XP_016865453.1:p.Ser4055= | |
| XM_017009965.1:c.12165C>T | XP_016865454.1:p.Ser4055= | |
| XM_017009966.2:c.12087C>T | XP_016865455.1:p.Ser4029= | |
| XM_017009967.1:c.12072C>T | XP_016865456.1:p.Ser4024= | |
| XM_017009968.2:c.12168C>T | XP_016865457.1:p.Ser4056= | |
| XM_017009969.2:c.12168C>T | XP_016865458.1:p.Ser4056= | |
| XM_017009970.2:c.12168C>T | XP_016865459.1:p.Ser4056= | |
| XM_017009971.2:c.12168C>T | XP_016865460.1:p.Ser4056= | |
| XM_017009972.1:c.5286C>T | XP_016865461.1:p.Ser1762= | |
| XM_017009973.1:c.5265C>T | XP_016865462.1:p.Ser1755= | |
| NR_003149.2:n.12163C>T |