Linked Data
ClinVar Variation Id:
472259
dbSNP Id:
rs143711180
ExAC:
11:95552046 G / A
gnomAD v2:
11-95552046-G-A
gnomAD v3:
11-95818882-G-A
gnomAD v4:
11-95818882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95818882G>A , CM000673.2:g.95818882G>A | GRCh38 |
| NC_000011.9:g.95552046G>A , CM000673.1:g.95552046G>A | GRCh37 |
| NC_000011.8:g.95191694G>A | NCBI36 |
| NG_029829.1:g.33422G>A , LRG_526:g.33422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325542.10:c.677G>A MANE Select | ENSP00000317902.5:p.Arg226His | |
| ENST00000325486.9:c.677G>A | ENSP00000317487.5:p.Arg226His | |
| ENST00000325542.9:c.677G>A | ENSP00000317902.5:p.Arg226His | |
| ENST00000535224.1:c.123G>A | ||
| ENST00000537093.5:c.140G>A | ENSP00000444749.1:p.Arg47His | |
| ENST00000537677.5:c.596G>A | ENSP00000441392.1:p.Arg199His | |
| ENST00000538658.5:c.677G>A | ENSP00000445706.1:p.Arg226His | |
| ENST00000539855.5:c.*456G>A | ENSP00000437422.1:n.*456G>A | |
| ENST00000540830.5:c.*441G>A | ENSP00000440996.1:n.*441G>A | |
| ENST00000541150.5:c.650G>A | ENSP00000443436.1:p.Arg217His | |
| ENST00000541365.5:c.596G>A | ENSP00000445821.1:p.Arg199His | |
| NM_001243776.1:c.650G>A | NP_001230705.1:p.Arg217His | |
| NM_001243777.1:c.677G>A | NP_001230706.1:p.Arg226His | |
| NM_014679.4:c.677G>A | NP_055494.2:p.Arg226His | |
| XM_006718945.2:c.560G>A | XP_006719008.1:p.Arg187His | |
| XM_006718946.2:c.677G>A | XP_006719009.1:p.Arg226His | |
| NM_001363604.1:c.596G>A | NP_001350533.1:p.Arg199His | |
| XM_006718945.3:c.560G>A | XP_006719008.1:p.Arg187His | |
| XM_006718946.3:c.677G>A | XP_006719009.1:p.Arg226His | |
| XM_017018592.1:c.650G>A | XP_016874081.1:p.Arg217His | |
| XM_017018593.2:c.560G>A | XP_016874082.1:p.Arg187His | |
| XM_017018594.2:c.560G>A | XP_016874083.1:p.Arg187His | |
| XM_024448779.1:c.479G>A | XP_024304547.1:p.Arg160His | |
| XR_001748050.2:n.905G>A | ||
| NM_014679.5:c.677G>A MANE Select | NP_055494.2:p.Arg226His | |
| NM_001243776.2:c.650G>A | NP_001230705.1:p.Arg217His | |
| NM_001243777.2:c.677G>A | NP_001230706.1:p.Arg226His | |
| NM_001363604.2:c.596G>A | NP_001350533.1:p.Arg199His |