Linked Data
ClinVar Variation Id:
215332
ClinVar RCV Id:
RCV001833157
dbSNP Id:
rs188802138
ExAC:
22:50967020 C / T
gnomAD v2:
22-50967020-C-T
gnomAD v3:
22-50528591-C-T
gnomAD v4:
22-50528591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50528591C>T , CM000684.2:g.50528591C>T | GRCh38 |
| NC_000022.10:g.50967020C>T , CM000684.1:g.50967020C>T | GRCh37 |
| NC_000022.9:g.49313886C>T | NCBI36 |
| NG_011860.1:g.6495G>A , LRG_727:g.6495G>A | |
| NG_016235.1:g.2849G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.437G>A MANE Select | ENSP00000252029.3:p.Arg146His | |
| ENST00000395680.6:c.437G>A | ENSP00000379037.1:p.Arg146His | |
| ENST00000395681.6:c.437G>A | ENSP00000379038.1:p.Arg146His | |
| ENST00000650719.1:c.437G>A | ENSP00000498276.1:p.Arg146His | |
| ENST00000651401.1:c.1-874G>A | ENSP00000499115.1:n.1-874G>A | |
| ENST00000651906.1:n.556G>A | ||
| ENST00000652352.1:c.166-18G>A | ENSP00000498579.1:n.166-18G>A | |
| ENST00000252029.7:c.437G>A | ENSP00000252029.3:p.Arg146His | |
| ENST00000395678.7:c.437G>A | ENSP00000379036.3:p.Arg146His | |
| ENST00000395680.5:c.437G>A | ENSP00000379037.1:p.Arg146His | |
| ENST00000395681.5:c.437G>A | ENSP00000379038.1:p.Arg146His | |
| ENST00000425169.1:c.417+545G>A | ENSP00000395875.1:n.417+545G>A | |
| ENST00000476284.1:n.562G>A | ||
| ENST00000487162.1:n.1250G>A | ||
| ENST00000487577.5:n.724G>A | ||
| NM_001113755.2:c.437G>A | NP_001107227.1:p.Arg146His | |
| NM_001113756.2:c.437G>A | NP_001107228.1:p.Arg146His | |
| NM_001257988.1:c.437G>A , LRG_727t1:c.437G>A | NP_001244917.1:p.Arg146His | |
| NM_001257989.1:c.437G>A , LRG_727t2:c.437G>A | NP_001244918.1:p.Arg146His | |
| NM_001953.4:c.437G>A | NP_001944.1:p.Arg146His | |
| NM_001113755.3:c.437G>A | NP_001107227.1:p.Arg146His | |
| NM_001113756.3:c.437G>A | NP_001107228.1:p.Arg146His | |
| NM_001953.5:c.437G>A MANE Select | NP_001944.1:p.Arg146His |