Linked Data
ClinVar Variation Id:
1141369
ClinVar RCV Id:
RCV001478807
dbSNP Id:
rs1423981525
gnomAD v2:
10-73558283-C-T
gnomAD v3:
10-71798526-C-T
gnomAD v4:
10-71798526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798526C>T , CM000672.2:g.71798526C>T | GRCh38 |
| NC_000010.10:g.73558283C>T , CM000672.1:g.73558283C>T | GRCh37 |
| NC_000010.9:g.73228289C>T | NCBI36 |
| NG_008835.1:g.406580C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7002C>T MANE Select | ENSP00000224721.9:p.Thr2334= | |
| ENST00000642965.1:c.935C>T | ENSP00000495222.1:n.935C>T | |
| ENST00000647092.1:c.599C>T | ENSP00000495176.1:n.599C>T | |
| ENST00000224721.10:c.7017C>T | ENSP00000224721.8:p.Thr2339= | |
| ENST00000398788.4:c.282C>T | ENSP00000381768.3:p.Thr94= | |
| ENST00000475158.1:n.538C>T | ||
| ENST00000619887.4:c.282C>T | ENSP00000478374.1:p.Thr94= | |
| ENST00000622827.4:c.7002C>T | ENSP00000483211.1:p.Thr2334= | |
| NM_001171933.1:c.282C>T | NP_001165404.1:p.Thr94= | |
| NM_001171934.1:c.282C>T | NP_001165405.1:p.Thr94= | |
| NM_022124.5:c.7002C>T | NP_071407.4:p.Thr2334= | |
| XM_006717940.2:c.7197C>T | XP_006718003.1:p.Thr2399= | |
| XM_006717942.2:c.7131C>T | XP_006718005.1:p.Thr2377= | |
| XM_011540039.1:c.7194C>T | XP_011538341.1:p.Thr2398= | |
| XM_011540040.1:c.7191C>T | XP_011538342.1:p.Thr2397= | |
| XM_011540041.1:c.7137C>T | XP_011538343.1:p.Thr2379= | |
| XM_011540042.1:c.7107C>T | XP_011538344.1:p.Thr2369= | |
| XM_011540043.1:c.7197C>T | XP_011538345.1:p.Thr2399= | |
| XM_011540044.1:c.7062C>T | XP_011538346.1:p.Thr2354= | |
| XM_011540045.1:c.7197C>T | XP_011538347.1:p.Thr2399= | |
| XM_011540046.1:c.6657C>T | XP_011538348.1:p.Thr2219= | |
| XM_011540047.1:c.6015C>T | XP_011538349.1:p.Thr2005= | |
| XM_011540052.1:c.3525C>T | XP_011538354.1:p.Thr1175= | |
| NM_022124.6:c.7002C>T MANE Select | NP_071407.4:p.Thr2334= |