Linked Data
ClinVar Variation Id:
215178
dbSNP Id:
rs186476316
ExAC:
11:118898467 C / T
gnomAD v2:
11-118898467-C-T
gnomAD v3:
11-119027757-C-T
gnomAD v4:
11-119027757-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027757C>T , CM000673.2:g.119027757C>T | GRCh38 |
| NC_000011.9:g.118898467C>T , CM000673.1:g.118898467C>T | GRCh37 |
| NC_000011.8:g.118403677C>T | NCBI36 |
| NG_013331.1:g.8150G>A , LRG_187:g.8150G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.726G>A | ||
| ENST00000697845.1:n.650G>A | ||
| ENST00000697846.1:n.726G>A | ||
| ENST00000697847.1:n.726G>A | ||
| ENST00000697848.1:n.726G>A | ||
| ENST00000697849.1:n.1765G>A | ||
| ENST00000697850.1:n.726G>A | ||
| ENST00000697851.1:n.2086G>A | ||
| ENST00000638186.1:n.800G>A | ||
| ENST00000638360.1:n.632G>A | ||
| ENST00000638925.1:n.733G>A | ||
| ENST00000650539.1:n.902G>A | ||
| ENST00000330775.9:c.497G>A | ENSP00000476242.2:p.Arg166His | |
| ENST00000357590.9:c.497G>A | ENSP00000476176.2:p.Arg166His | |
| ENST00000524428.5:n.818G>A | ||
| ENST00000525039.5:n.920G>A | ||
| ENST00000525102.5:n.1254G>A | ||
| ENST00000525372.5:n.497G>A | ||
| ENST00000526275.5:n.1278G>A | ||
| ENST00000526626.6:n.459G>A | ||
| ENST00000527992.5:n.724G>A | ||
| ENST00000529510.5:n.399+437G>A | ||
| ENST00000530407.5:n.646G>A | ||
| ENST00000532085.1:n.3107G>A | ||
| ENST00000532888.6:n.792G>A | ||
| ENST00000538950.5:c.278G>A | ENSP00000475991.2:p.Arg93His | |
| ENST00000545985.5:c.497G>A | ENSP00000475241.2:p.Arg166His | |
| NM_001164277.1:c.497G>A , LRG_187t1:c.497G>A | NP_001157749.1:p.Arg166His | |
| NM_001164278.1:c.497G>A | NP_001157750.1:p.Arg166His | |
| NM_001164279.1:c.278G>A | NP_001157751.1:p.Arg93His | |
| NM_001164280.1:c.497G>A | NP_001157752.1:p.Arg166His | |
| NM_001467.5:c.497G>A | NP_001458.1:p.Arg166His | |
| NM_001164278.2:c.497G>A | NP_001157750.1:p.Arg166His | |
| NM_001164279.2:c.278G>A | NP_001157751.1:p.Arg93His | |
| NM_001164280.2:c.497G>A | NP_001157752.1:p.Arg166His | |
| NM_001467.6:c.497G>A | NP_001458.1:p.Arg166His | |
| NM_001164277.2:c.497G>A MANE Select | NP_001157749.1:p.Arg166His |