Linked Data
ClinVar Variation Id:
2526
ClinVar RCV Id:
RCV000002634
dbSNP Id:
rs28940281
gnomAD v4:
8-1882669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1882669C>T , CM000670.2:g.1882669C>T | GRCh38 |
| NC_000008.10:g.1830835C>T , CM000670.1:g.1830835C>T | GRCh37 |
| NC_000008.9:g.1818242C>T | NCBI36 |
| NG_008480.1:g.63687C>T , LRG_234:g.63687C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349830.8:c.995C>T MANE Select | ENSP00000340297.3:p.Thr332Ile | |
| ENST00000635773.1:c.1523C>T | ||
| ENST00000635855.1:c.*949C>T | ENSP00000489726.1:n.*949C>T | |
| ENST00000349830.7:c.995C>T | ENSP00000340297.3:p.Thr332Ile | |
| ENST00000398560.2:c.263C>T | ENSP00000381568.2:p.Thr88Ile | |
| ENST00000398564.5:c.1070C>T | ENSP00000381571.1:p.Thr357Ile | |
| ENST00000518288.5:c.1070C>T | ENSP00000431012.1:p.Thr357Ile | |
| ENST00000520359.5:c.881C>T | ENSP00000427909.1:p.Thr294Ile | |
| ENST00000520972.5:n.691C>T | ||
| ENST00000522435.5:c.14C>T | ENSP00000427768.1:p.Thr5Ile | |
| ENST00000523711.5:n.719C>T | ||
| NM_001308152.1:c.881C>T | NP_001295081.1:p.Thr294Ile | |
| NM_001308153.1:c.1070C>T | NP_001295082.1:p.Thr357Ile | |
| NM_014629.2:c.995C>T , LRG_234t1:c.995C>T | NP_055444.2:p.Thr332Ile | |
| NM_014629.3:c.995C>T | NP_055444.2:p.Thr332Ile | |
| XM_005266041.2:c.998C>T | XP_005266098.1:p.Thr333Ile | |
| XM_011534766.1:c.998C>T | XP_011533068.1:p.Thr333Ile | |
| XM_011534767.1:c.878C>T | XP_011533069.1:p.Thr293Ile | |
| XM_011534768.1:c.998C>T | XP_011533070.1:p.Thr333Ile | |
| XM_011534769.1:c.953C>T | XP_011533071.1:p.Thr318Ile | |
| XM_011534770.1:c.998C>T | XP_011533072.1:p.Thr333Ile | |
| XM_005266041.4:c.998C>T | XP_005266098.1:p.Thr333Ile | |
| XM_011534767.2:c.878C>T | XP_011533069.1:p.Thr293Ile | |
| XM_011534770.2:c.998C>T | XP_011533072.1:p.Thr333Ile | |
| XM_017014003.1:c.1070C>T | XP_016869492.1:p.Thr357Ile | |
| XM_024447334.1:c.998C>T | XP_024303102.1:p.Thr333Ile | |
| XM_024447335.1:c.1082C>T | XP_024303103.1:p.Thr361Ile | |
| NM_014629.4:c.995C>T MANE Select | NP_055444.2:p.Thr332Ile | |
| NM_001308152.2:c.881C>T | NP_001295081.1:p.Thr294Ile | |
| NM_001308153.2:c.1070C>T | NP_001295082.1:p.Thr357Ile |