Linked Data
ClinVar Variation Id:
2216001
ClinVar RCV Id:
RCV004082765
dbSNP Id:
rs200730474
ExAC:
3:49323658 C / A
gnomAD v2:
3-49323658-C-A
gnomAD v3:
3-49286225-C-A
gnomAD v4:
3-49286225-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49286225C>A , CM000665.2:g.49286225C>A | GRCh38 |
| NC_000003.11:g.49323658C>A , CM000665.1:g.49323658C>A | GRCh37 |
| NC_000003.10:g.49298662C>A | NCBI36 |
| NG_030370.1:g.58879G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265560.9:c.2073G>T MANE Select | ENSP00000265560.4:p.Glu691Asp | |
| ENST00000265560.8:c.2073G>T | ENSP00000265560.4:p.Glu691Asp | |
| ENST00000351842.8:c.1932G>T | ENSP00000341028.4:p.Glu644Asp | |
| ENST00000431357.1:c.1288G>T | ||
| ENST00000475873.2:n.289G>T | ||
| ENST00000485450.5:n.2587G>T | ||
| NM_003363.3:c.2073G>T | NP_003354.2:p.Glu691Asp | |
| NM_199443.2:c.1932G>T | NP_955475.1:p.Glu644Asp | |
| NM_003363.4:c.2073G>T MANE Select | NP_003354.2:p.Glu691Asp | |
| NM_199443.3:c.1932G>T | NP_955475.1:p.Glu644Asp |