Linked Data
ClinVar Variation Id:
8473
dbSNP Id:
rs121909334
gnomAD v2:
9-35065252-C-T
gnomAD v4:
9-35065255-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35065255C>T , CM000671.2:g.35065255C>T | GRCh38 |
| NC_000009.11:g.35065252C>T , CM000671.1:g.35065252C>T | GRCh37 |
| NC_000009.10:g.35055252C>T | NCBI36 |
| NG_007887.1:g.12488G>A , LRG_657:g.12488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.572G>A MANE Select | ENSP00000351777.6:p.Arg191Gln | |
| ENST00000417448.2:c.437G>A | ENSP00000399456.2:p.Arg146Gln | |
| ENST00000448530.6:c.437G>A | ENSP00000392088.2:p.Arg146Gln | |
| ENST00000480327.2:n.844G>A | ||
| ENST00000676836.2:n.918G>A | ||
| ENST00000677257.1:c.566G>A | ENSP00000504354.1:p.Arg189Gln | |
| ENST00000678018.1:c.*543G>A | ENSP00000503811.1:n.*543G>A | |
| ENST00000678465.1:c.572G>A | ENSP00000504259.1:p.Arg191Gln | |
| ENST00000678650.1:c.437G>A | ENSP00000503426.1:p.Arg146Gln | |
| ENST00000679204.2:c.572G>A | ENSP00000503131.2:p.Arg191Gln | |
| ENST00000679599.1:n.842G>A | ||
| ENST00000679647.1:c.572G>A | ENSP00000506216.1:p.Arg191Gln | |
| ENST00000679800.1:n.893G>A | ||
| ENST00000679862.1:c.437G>A | ENSP00000504990.1:p.Arg146Gln | |
| ENST00000679902.1:c.572G>A | ENSP00000506338.1:p.Arg191Gln | |
| ENST00000680520.1:c.127G>A | ||
| ENST00000680731.1:c.*60G>A | ENSP00000505497.1:n.*60G>A | |
| ENST00000680834.1:c.54G>A | ||
| ENST00000680916.1:c.572G>A | ENSP00000505769.1:p.Arg191Gln | |
| ENST00000681335.1:c.572G>A | ENSP00000505230.1:p.Arg191Gln | |
| ENST00000681562.1:c.324G>A | ||
| ENST00000681690.1:n.844G>A | ||
| ENST00000681789.1:c.127G>A | ||
| ENST00000358901.10:c.572G>A | ENSP00000351777.6:p.Arg191Gln | |
| ENST00000448530.5:c.437G>A | ENSP00000392088.1:p.Arg146Gln | |
| ENST00000493886.5:n.768G>A | ||
| NM_007126.3:c.572G>A , LRG_657t1:c.572G>A | NP_009057.1:p.Arg191Gln | |
| NM_001354927.1:c.437G>A | NP_001341856.1:p.Arg146Gln | |
| NM_001354928.1:c.437G>A | NP_001341857.1:p.Arg146Gln | |
| NM_007126.4:c.572G>A | NP_009057.1:p.Arg191Gln | |
| NM_007126.5:c.572G>A MANE Select | NP_009057.1:p.Arg191Gln | |
| NM_001354927.2:c.437G>A | NP_001341856.1:p.Arg146Gln | |
| NM_001354928.2:c.437G>A | NP_001341857.1:p.Arg146Gln |