Linked Data
ClinVar Variation Id:
96556
dbSNP Id:
rs368553676
ExAC:
3:180377337 C / T
gnomAD v2:
3-180377337-C-T
gnomAD v3:
3-180659549-C-T
gnomAD v4:
3-180659549-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659549C>T , CM000665.2:g.180659549C>T | GRCh38 |
| NC_000003.11:g.180377337C>T , CM000665.1:g.180377337C>T | GRCh37 |
| NC_000003.10:g.181860031C>T | NCBI36 |
| NG_029581.1:g.24947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.641G>A MANE Select | ENSP00000417960.2:p.Arg214His | |
| ENST00000650641.1:n.720G>A | ||
| ENST00000650889.1:n.813G>A | ||
| ENST00000651046.1:c.641G>A | ENSP00000499175.1:p.Arg214His | |
| ENST00000651818.1:n.783G>A | ||
| ENST00000652024.1:n.732G>A | ||
| ENST00000652408.1:n.778G>A | ||
| ENST00000442201.6:c.641G>A | ENSP00000405708.2:p.Arg214His | |
| ENST00000476379.5:c.641G>A | ENSP00000417960.1:p.Arg214His | |
| NM_181426.1:c.641G>A | NP_852091.1:p.Arg214His | |
| NM_181426.2:c.641G>A MANE Select | NP_852091.1:p.Arg214His |