Linked Data
ClinVar Variation Id:
344280
dbSNP Id:
rs182803063
ExAC:
3:180381651 G / A
gnomAD v2:
3-180381651-G-A
gnomAD v3:
3-180663863-G-A
gnomAD v4:
3-180663863-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180663863G>A , CM000665.2:g.180663863G>A | GRCh38 |
| NC_000003.11:g.180381651G>A , CM000665.1:g.180381651G>A | GRCh37 |
| NC_000003.10:g.181864345G>A | NCBI36 |
| NG_029581.1:g.20633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.210+4C>T MANE Select | ENSP00000417960.2:n.210+4C>T | |
| ENST00000650641.1:n.289+4C>T | ||
| ENST00000650889.1:n.382+4C>T | ||
| ENST00000651046.1:c.210+4C>T | ENSP00000499175.1:n.210+4C>T | |
| ENST00000651818.1:n.352+4C>T | ||
| ENST00000652024.1:n.301+4C>T | ||
| ENST00000652408.1:n.347+4C>T | ||
| ENST00000442201.6:c.210+4C>T | ENSP00000405708.2:n.210+4C>T | |
| ENST00000471307.6:c.156+4C>T | ENSP00000418702.2:n.156+4C>T | |
| ENST00000476379.5:c.210+4C>T | ENSP00000417960.1:n.210+4C>T | |
| NM_181426.1:c.210+4C>T | NP_852091.1:n.210+4C>T | |
| NM_181426.2:c.210+4C>T MANE Select | NP_852091.1:n.210+4C>T |