Linked Data
ClinVar Variation Id:
391448
dbSNP Id:
rs147831309
ExAC:
2:73827881 C / T
gnomAD v2:
2-73827881-C-T
gnomAD v3:
2-73600754-C-T
gnomAD v4:
2-73600754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73600754C>T , CM000664.2:g.73600754C>T | GRCh38 |
| NC_000002.11:g.73827881C>T , CM000664.1:g.73827881C>T | GRCh37 |
| NC_000002.10:g.73681389C>T | NCBI36 |
| NG_011690.1:g.220002C>T , LRG_741:g.220002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11364C>T | ENSP00000507671.1:p.Ser3788= | |
| ENST00000682801.1:c.11167-1431C>T | ENSP00000507862.1:n.11167-1431C>T | |
| ENST00000682859.1:c.11364C>T | ENSP00000508222.1:p.Ser3788= | |
| ENST00000683791.1:c.4450C>T | ||
| ENST00000684460.1:c.8645C>T | ||
| ENST00000684548.1:c.11364C>T | ENSP00000507421.1:p.Ser3788= | |
| ENST00000684590.1:c.5811C>T | ENSP00000507376.1:p.Ser1937= | |
| ENST00000684656.1:c.8829C>T | ||
| ENST00000613296.6:c.11745C>T MANE Select | ENSP00000482968.1:p.Ser3915= | |
| ENST00000651057.1:c.1899C>T | ENSP00000498504.1:p.Ser633= | |
| ENST00000651434.1:c.3101C>T | ||
| ENST00000651750.1:c.1133C>T | ||
| ENST00000652487.1:c.2916C>T | ||
| ENST00000484298.5:c.11619C>T | ENSP00000478155.1:p.Ser3873= | |
| ENST00000613296.4:c.11745C>T | ENSP00000482968.1:p.Ser3915= | |
| ENST00000620466.4:n.5548C>T | ||
| NM_015120.4:c.11748C>T , LRG_741t1:c.11748C>T | NP_055935.4:p.Ser3916= | |
| NM_001378454.1:c.11745C>T MANE Select | NP_001365383.1:p.Ser3915= |