Linked Data
ClinVar Variation Id:
161514
dbSNP Id:
rs193921145
ExAC:
3:189582118 G / A
gnomAD v2:
3-189582118-G-A
gnomAD v3:
3-189864329-G-A
gnomAD v4:
3-189864329-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189864329G>A , CM000665.2:g.189864329G>A | GRCh38 |
| NC_000003.11:g.189582118G>A , CM000665.1:g.189582118G>A | GRCh37 |
| NC_000003.10:g.191064812G>A | NCBI36 |
| NG_007550.1:g.237903G>A | |
| NG_007550.2:g.237903G>A | |
| NG_007550.3:g.272584G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.677G>A MANE Select | ENSP00000264731.3:p.Arg226His | |
| ENST00000354600.10:c.395G>A MANE Plus Clinical | ENSP00000346614.5:p.Arg132His | |
| ENST00000264731.7:c.677G>A | ENSP00000264731.3:p.Arg226His | |
| ENST00000320472.9:c.677G>A | ENSP00000317510.5:p.Arg226His | |
| ENST00000354600.9:c.395G>A | ENSP00000346614.5:p.Arg132His | |
| ENST00000392460.7:c.677G>A | ENSP00000376253.3:p.Arg226His | |
| ENST00000392461.7:c.395G>A | ENSP00000376254.3:p.Arg132His | |
| ENST00000392463.6:c.395G>A | ENSP00000376256.2:p.Arg132His | |
| ENST00000418709.6:c.677G>A | ENSP00000407144.2:p.Arg226His | |
| ENST00000437221.5:c.395G>A | ENSP00000392488.1:p.Arg132His | |
| ENST00000440651.6:c.677G>A | ENSP00000394337.2:p.Arg226His | |
| ENST00000449992.5:c.140G>A | ENSP00000387839.1:p.Arg47His | |
| ENST00000456148.1:c.395G>A | ENSP00000389485.1:p.Arg132His | |
| ENST00000460036.1:n.501G>A | ||
| NM_001114978.1:c.677G>A | NP_001108450.1:p.Arg226His | |
| NM_001114979.1:c.677G>A | NP_001108451.1:p.Arg226His | |
| NM_001114980.1:c.395G>A | NP_001108452.1:p.Arg132His | |
| NM_001114981.1:c.395G>A | NP_001108453.1:p.Arg132His | |
| NM_001114982.1:c.395G>A | NP_001108454.1:p.Arg132His | |
| NM_003722.4:c.677G>A | NP_003713.3:p.Arg226His | |
| XM_005247843.2:c.677G>A | XP_005247900.1:p.Arg226His | |
| XM_005247844.3:c.626G>A | XP_005247901.1:p.Arg209His | |
| XM_005247846.2:c.677G>A | XP_005247903.1:p.Arg226His | |
| XM_011513251.1:c.674G>A | XP_011511553.1:p.Arg225His | |
| XM_011513252.1:c.671G>A | XP_011511554.1:p.Arg224His | |
| XM_011513253.1:c.638G>A | XP_011511555.1:p.Arg213His | |
| NM_001329144.1:c.677G>A | NP_001316073.1:p.Arg226His | |
| NM_001329145.1:c.395G>A | NP_001316074.1:p.Arg132His | |
| NM_001329146.1:c.140G>A | NP_001316075.1:p.Arg47His | |
| NM_001329148.1:c.677G>A | NP_001316077.1:p.Arg226His | |
| NM_001329149.1:c.395G>A | NP_001316078.1:p.Arg132His | |
| NM_001329150.1:c.140G>A | NP_001316079.1:p.Arg47His | |
| NM_001329964.1:c.671G>A | NP_001316893.1:p.Arg224His | |
| NM_003722.5:c.677G>A MANE Select | NP_003713.3:p.Arg226His | |
| NM_001114978.2:c.677G>A | NP_001108450.1:p.Arg226His | |
| NM_001114979.2:c.677G>A | NP_001108451.1:p.Arg226His | |
| NM_001114980.2:c.395G>A MANE Plus Clinical | NP_001108452.1:p.Arg132His | |
| NM_001114981.2:c.395G>A | NP_001108453.1:p.Arg132His | |
| NM_001114982.2:c.395G>A | NP_001108454.1:p.Arg132His | |
| NM_001329144.2:c.677G>A | NP_001316073.1:p.Arg226His | |
| NM_001329145.2:c.395G>A | NP_001316074.1:p.Arg132His | |
| NM_001329146.2:c.140G>A | NP_001316075.1:p.Arg47His | |
| NM_001329148.2:c.677G>A | NP_001316077.1:p.Arg226His | |
| NM_001329149.2:c.395G>A | NP_001316078.1:p.Arg132His | |
| NM_001329150.2:c.140G>A | NP_001316079.1:p.Arg47His | |
| NM_001329964.2:c.671G>A | NP_001316893.1:p.Arg224His |