Linked Data
ClinVar Variation Id:
1257425
dbSNP Id:
rs12329760
ExAC:
21:42852497 C / T
gnomAD v2:
21-42852497-C-T
gnomAD v3:
21-41480570-C-T
gnomAD v4:
21-41480570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41480570C>T , CM000683.2:g.41480570C>T | GRCh38 |
| NC_000021.8:g.42852497C>T , CM000683.1:g.42852497C>T | GRCh37 |
| NC_000021.7:g.41774367C>T | NCBI36 |
| NG_047085.1:g.32589G>A | |
| NG_047085.2:g.55547G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332149.10:c.478G>A MANE Select | ENSP00000330330.5:p.Val160Met | |
| ENST00000424093.6:c.358G>A | ENSP00000397846.2:p.Val120Met | |
| ENST00000454499.6:c.478G>A | ENSP00000389006.2:p.Val160Met | |
| ENST00000458356.6:c.478G>A | ENSP00000391216.1:p.Val160Met | |
| ENST00000676973.1:c.478G>A | ENSP00000504705.1:p.Val160Met | |
| ENST00000677680.1:c.478G>A | ENSP00000504526.1:p.Val160Met | |
| ENST00000678171.1:c.478G>A | ENSP00000503877.1:p.Val160Met | |
| ENST00000678348.1:c.478G>A | ENSP00000503556.1:p.Val160Met | |
| ENST00000678617.1:n.717G>A | ||
| ENST00000678743.1:c.154G>A | ENSP00000503377.1:p.Val52Met | |
| ENST00000678959.1:c.*210G>A | ENSP00000503114.1:n.*210G>A | |
| ENST00000679016.1:c.271G>A | ENSP00000504610.1:p.Val91Met | |
| ENST00000679054.1:c.478G>A | ENSP00000502928.1:p.Val160Met | |
| ENST00000679181.1:c.478G>A | ENSP00000504238.1:p.Val160Met | |
| ENST00000679263.1:c.637G>A | ENSP00000504602.1:p.Val213Met | |
| ENST00000332149.9:c.478G>A | ENSP00000330330.5:p.Val160Met | |
| ENST00000398585.7:c.589G>A | ENSP00000381588.3:p.Val197Met | |
| ENST00000424093.5:c.358G>A | ENSP00000397846.1:p.Val120Met | |
| ENST00000454499.5:c.478G>A | ENSP00000389006.1:p.Val160Met | |
| ENST00000458356.5:c.478G>A | ENSP00000391216.1:p.Val160Met | |
| NM_001135099.1:c.589G>A | NP_001128571.1:p.Val197Met | |
| NM_005656.3:c.478G>A | NP_005647.3:p.Val160Met | |
| XM_005261043.2:c.358G>A | XP_005261100.1:p.Val120Met | |
| XM_011529731.1:c.478G>A | XP_011528033.1:p.Val160Met | |
| XM_011529732.1:c.478G>A | XP_011528034.1:p.Val160Met | |
| XM_011529733.1:c.154G>A | XP_011528035.1:p.Val52Met | |
| NM_005656.4:c.478G>A MANE Select | NP_005647.3:p.Val160Met | |
| NM_001382720.1:c.478G>A | NP_001369649.1:p.Val160Met |