Linked Data
ClinVar Variation Id:
412661
dbSNP Id:
rs189032342
ExAC:
2:73800411 C / T
gnomAD v2:
2-73800411-C-T
gnomAD v3:
2-73573284-C-T
gnomAD v4:
2-73573284-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73573284C>T , CM000664.2:g.73573284C>T | GRCh38 |
| NC_000002.11:g.73800411C>T , CM000664.1:g.73800411C>T | GRCh37 |
| NC_000002.10:g.73653919C>T | NCBI36 |
| NG_011690.1:g.192532C>T , LRG_741:g.192532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11026C>T | ENSP00000507671.1:p.Pro3676Ser | |
| ENST00000682801.1:c.11026C>T | ENSP00000507862.1:p.Pro3676Ser | |
| ENST00000682859.1:c.11026C>T | ENSP00000508222.1:p.Pro3676Ser | |
| ENST00000683791.1:c.4112C>T | ||
| ENST00000684460.1:c.8307C>T | ||
| ENST00000684548.1:c.11026C>T | ENSP00000507421.1:p.Pro3676Ser | |
| ENST00000684590.1:c.5473C>T | ENSP00000507376.1:p.Pro1825Ser | |
| ENST00000684656.1:c.8352C>T | ||
| ENST00000613296.6:c.11407C>T MANE Select | ENSP00000482968.1:p.Pro3803Ser | |
| ENST00000651057.1:c.1561C>T | ENSP00000498504.1:p.Pro521Ser | |
| ENST00000651434.1:c.2763C>T | ||
| ENST00000651750.1:c.795C>T | ||
| ENST00000652487.1:c.2504C>T | ||
| ENST00000423048.5:c.4898C>T | ENSP00000399833.1:n.4898C>T | |
| ENST00000484298.5:c.11281C>T | ENSP00000478155.1:p.Pro3761Ser | |
| ENST00000613296.4:c.11407C>T | ENSP00000482968.1:p.Pro3803Ser | |
| ENST00000614410.4:c.11407C>T | ENSP00000479094.1:p.Pro3803Ser | |
| ENST00000620466.4:n.5210C>T | ||
| NM_015120.4:c.11410C>T , LRG_741t1:c.11410C>T | NP_055935.4:p.Pro3804Ser | |
| NM_001378454.1:c.11407C>T MANE Select | NP_001365383.1:p.Pro3803Ser |