Linked Data
ClinVar Variation Id:
344262
dbSNP Id:
rs376782159
ExAC:
3:180337678 G / A
gnomAD v2:
3-180337678-G-A
gnomAD v3:
3-180619890-G-A
gnomAD v4:
3-180619890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180619890G>A , CM000665.2:g.180619890G>A | GRCh38 |
| NC_000003.11:g.180337678G>A , CM000665.1:g.180337678G>A | GRCh37 |
| NC_000003.10:g.181820372G>A | NCBI36 |
| NG_029581.1:g.64606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.2079C>T MANE Select | ENSP00000417960.2:p.Tyr693= | |
| ENST00000650641.1:n.1966C>T | ||
| ENST00000651046.1:c.1887C>T | ENSP00000499175.1:p.Tyr629= | |
| ENST00000651922.1:n.1404C>T | ||
| ENST00000652010.1:n.1710C>T | ||
| ENST00000652408.1:n.2216C>T | ||
| ENST00000442201.6:c.2079C>T | ENSP00000405708.2:p.Tyr693= | |
| ENST00000476379.5:c.1999-525C>T | ENSP00000417960.1:n.1999-525C>T | |
| NM_181426.1:c.2079C>T | NP_852091.1:p.Tyr693= | |
| NM_181426.2:c.2079C>T MANE Select | NP_852091.1:p.Tyr693= |