Linked Data
ClinVar Variation Id:
390222
dbSNP Id:
rs142558799
ExAC:
2:73799896 G / A
gnomAD v2:
2-73799896-G-A
gnomAD v3:
2-73572769-G-A
gnomAD v4:
2-73572769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572769G>A , CM000664.2:g.73572769G>A | GRCh38 |
| NC_000002.11:g.73799896G>A , CM000664.1:g.73799896G>A | GRCh37 |
| NC_000002.10:g.73653404G>A | NCBI36 |
| NG_011690.1:g.192017G>A , LRG_741:g.192017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10511G>A | ENSP00000507671.1:p.Arg3504His | |
| ENST00000682801.1:c.10511G>A | ENSP00000507862.1:p.Arg3504His | |
| ENST00000682859.1:c.10511G>A | ENSP00000508222.1:p.Arg3504His | |
| ENST00000683791.1:c.3597G>A | ||
| ENST00000684460.1:c.7792G>A | ||
| ENST00000684548.1:c.10511G>A | ENSP00000507421.1:p.Arg3504His | |
| ENST00000684590.1:c.4958G>A | ENSP00000507376.1:p.Arg1653His | |
| ENST00000684656.1:c.7837G>A | ||
| ENST00000613296.6:c.10892G>A MANE Select | ENSP00000482968.1:p.Arg3631His | |
| ENST00000651057.1:c.1046G>A | ENSP00000498504.1:p.Arg349His | |
| ENST00000651434.1:c.2248G>A | ||
| ENST00000651750.1:c.280G>A | ||
| ENST00000652487.1:c.1989G>A | ||
| ENST00000423048.5:c.4383G>A | ENSP00000399833.1:n.4383G>A | |
| ENST00000484298.5:c.10766G>A | ENSP00000478155.1:p.Arg3589His | |
| ENST00000613296.4:c.10892G>A | ENSP00000482968.1:p.Arg3631His | |
| ENST00000614410.4:c.10892G>A | ENSP00000479094.1:p.Arg3631His | |
| ENST00000620466.4:n.4695G>A | ||
| NM_015120.4:c.10895G>A , LRG_741t1:c.10895G>A | NP_055935.4:p.Arg3632His | |
| NM_001378454.1:c.10892G>A MANE Select | NP_001365383.1:p.Arg3631His |