Linked Data
ClinVar Variation Id:
319909
dbSNP Id:
rs147901432
ExAC:
16:56919276 G / A
gnomAD v2:
16-56919276-G-A
gnomAD v3:
16-56885364-G-A
gnomAD v4:
16-56885364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56885364G>A , CM000678.2:g.56885364G>A | GRCh38 |
| NC_000016.9:g.56919276G>A , CM000678.1:g.56919276G>A | GRCh37 |
| NC_000016.8:g.55476777G>A | NCBI36 |
| NG_009386.1:g.25158G>A | |
| NG_009386.2:g.25158G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.1925G>A MANE Select | ENSP00000456149.2:p.Arg642His | |
| ENST00000262502.5:c.1922G>A | ENSP00000262502.5:p.Arg641His | |
| ENST00000438926.6:c.1925G>A | ENSP00000402152.2:p.Arg642His | |
| ENST00000563236.5:c.1925G>A | ENSP00000456149.1:p.Arg642His | |
| ENST00000566786.5:c.1922G>A | ENSP00000457552.1:p.Arg641His | |
| NM_000339.2:c.1925G>A | NP_000330.2:p.Arg642His | |
| NM_001126107.1:c.1922G>A | NP_001119579.1:p.Arg641His | |
| NM_001126108.1:c.1925G>A | NP_001119580.1:p.Arg642His | |
| XM_005256119.1:c.1922G>A | XP_005256176.1:p.Arg641His | |
| XM_005256119.2:c.1922G>A | XP_005256176.1:p.Arg641His | |
| NM_000339.3:c.1925G>A | NP_000330.3:p.Arg642His | |
| NM_001126107.2:c.1922G>A | NP_001119579.2:p.Arg641His | |
| NM_001126108.2:c.1925G>A MANE Select | NP_001119580.2:p.Arg642His |