Linked Data
ClinVar Variation Id:
64477
ClinVar RCV Id:
RCV000054664
dbSNP Id:
rs387907389
gnomAD v4:
22-41507867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41507867C>T , CM000684.2:g.41507867C>T | GRCh38 |
| NC_000022.10:g.41903871C>T , CM000684.1:g.41903871C>T | GRCh37 |
| NC_000022.9:g.40233817C>T | NCBI36 |
| NG_032143.1:g.43743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216254.9:c.250C>T MANE Select | ENSP00000216254.4:p.Arg84Ter | |
| ENST00000466237.2:c.250C>T | ENSP00000504719.1:p.Arg84Ter | |
| ENST00000676664.1:c.196C>T | ENSP00000503709.1:p.Arg66Ter | |
| ENST00000676714.1:c.*168C>T | ENSP00000504699.1:n.*168C>T | |
| ENST00000676748.1:c.151C>T | ENSP00000503371.1:p.Arg51Ter | |
| ENST00000676792.1:c.85C>T | ENSP00000503590.1:p.Arg29Ter | |
| ENST00000676822.1:n.498C>T | ||
| ENST00000676959.1:c.250C>T | ENSP00000504377.1:p.Arg84Ter | |
| ENST00000677007.1:c.250C>T | ENSP00000504634.1:p.Arg84Ter | |
| ENST00000677153.1:c.151C>T | ENSP00000504453.1:p.Arg51Ter | |
| ENST00000677427.1:n.280C>T | ||
| ENST00000677516.1:c.250C>T | ENSP00000503370.1:p.Arg84Ter | |
| ENST00000677532.1:c.274C>T | ENSP00000503471.1:p.Arg92Ter | |
| ENST00000677554.1:c.250C>T | ENSP00000504513.1:p.Arg84Ter | |
| ENST00000677698.1:c.623C>T | ||
| ENST00000678269.1:c.250C>T | ENSP00000504150.1:p.Arg84Ter | |
| ENST00000678394.1:n.427C>T | ||
| ENST00000678454.1:n.280C>T | ||
| ENST00000678600.1:n.291C>T | ||
| ENST00000678688.1:c.250C>T | ENSP00000503990.1:p.Arg84Ter | |
| ENST00000678788.1:c.250C>T | ENSP00000504684.1:p.Arg84Ter | |
| ENST00000678819.1:c.*113C>T | ENSP00000503199.1:n.*113C>T | |
| ENST00000679264.1:n.279C>T | ||
| ENST00000679311.1:n.280C>T | ||
| ENST00000679320.1:c.250C>T | ENSP00000504780.1:p.Arg84Ter | |
| ENST00000216254.8:c.250C>T | ENSP00000216254.4:p.Arg84Ter | |
| ENST00000396512.3:c.250C>T | ENSP00000379769.3:p.Arg84Ter | |
| ENST00000471094.1:n.426C>T | ||
| ENST00000482208.1:n.30C>T | ||
| NM_001098.2:c.250C>T | NP_001089.1:p.Arg84Ter | |
| XM_017028812.1:c.151C>T | XP_016884301.1:p.Arg51Ter | |
| XM_024452250.1:c.250C>T | XP_024308018.1:p.Arg84Ter | |
| NM_001098.3:c.250C>T MANE Select | NP_001089.1:p.Arg84Ter |