Linked Data
ClinVar Variation Id:
449554
dbSNP Id:
rs779959657
ExAC:
9:35067912 C / T
gnomAD v2:
9-35067912-C-T
gnomAD v3:
9-35067915-C-T
gnomAD v4:
9-35067915-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35067915C>T , CM000671.2:g.35067915C>T | GRCh38 |
| NC_000009.11:g.35067912C>T , CM000671.1:g.35067912C>T | GRCh37 |
| NC_000009.10:g.35057912C>T | NCBI36 |
| NG_007887.1:g.9828G>A , LRG_657:g.9828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.278G>A MANE Select | ENSP00000351777.6:p.Arg93His | |
| ENST00000417448.2:c.143G>A | ENSP00000399456.2:p.Arg48His | |
| ENST00000448530.6:c.143G>A | ENSP00000392088.2:p.Arg48His | |
| ENST00000480327.2:n.550G>A | ||
| ENST00000676836.2:n.541G>A | ||
| ENST00000677257.1:c.272G>A | ENSP00000504354.1:p.Arg91His | |
| ENST00000678018.1:c.*249G>A | ENSP00000503811.1:n.*249G>A | |
| ENST00000678465.1:c.278G>A | ENSP00000504259.1:p.Arg93His | |
| ENST00000678650.1:c.143G>A | ENSP00000503426.1:p.Arg48His | |
| ENST00000679204.2:c.278G>A | ENSP00000503131.2:p.Arg93His | |
| ENST00000679449.1:c.297G>A | ||
| ENST00000679599.1:n.548G>A | ||
| ENST00000679647.1:c.278G>A | ENSP00000506216.1:p.Arg93His | |
| ENST00000679800.1:n.516G>A | ||
| ENST00000679862.1:c.143G>A | ENSP00000504990.1:p.Arg48His | |
| ENST00000679902.1:c.278G>A | ENSP00000506338.1:p.Arg93His | |
| ENST00000680079.1:c.*199G>A | ENSP00000506523.1:n.*199G>A | |
| ENST00000680731.1:c.143G>A | ENSP00000505497.1:p.Arg48His | |
| ENST00000680900.1:c.282G>A | ||
| ENST00000680916.1:c.278G>A | ENSP00000505769.1:p.Arg93His | |
| ENST00000681335.1:c.278G>A | ENSP00000505230.1:p.Arg93His | |
| ENST00000681386.1:c.143G>A | ENSP00000505509.1:p.Arg48His | |
| ENST00000681690.1:n.550G>A | ||
| ENST00000681845.1:c.444G>A | ||
| ENST00000358901.10:c.278G>A | ENSP00000351777.6:p.Arg93His | |
| ENST00000417448.1:c.143G>A | ENSP00000399456.1:p.Arg48His | |
| ENST00000448530.5:c.143G>A | ENSP00000392088.1:p.Arg48His | |
| ENST00000493886.5:n.474G>A | ||
| NM_007126.3:c.278G>A , LRG_657t1:c.278G>A | NP_009057.1:p.Arg93His | |
| NM_001354927.1:c.143G>A | NP_001341856.1:p.Arg48His | |
| NM_001354928.1:c.143G>A | NP_001341857.1:p.Arg48His | |
| NM_007126.4:c.278G>A | NP_009057.1:p.Arg93His | |
| NM_007126.5:c.278G>A MANE Select | NP_009057.1:p.Arg93His | |
| NM_001354927.2:c.143G>A | NP_001341856.1:p.Arg48His | |
| NM_001354928.2:c.143G>A | NP_001341857.1:p.Arg48His |