Linked Data
ClinVar Variation Id:
18315
ClinVar RCV Id:
RCV000019980
dbSNP Id:
rs28999111
gnomAD v4:
17-81512000-G-A
PubMed:
PMID:13680526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81512000G>A , CM000679.2:g.81512000G>A | GRCh38 |
| NC_000017.10:g.79479026G>A , CM000679.1:g.79479026G>A | GRCh37 |
| NC_000017.9:g.77093621G>A | NCBI36 |
| NG_011433.1:g.5802C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570382.2:c.266C>T | ENSP00000466346.2:p.Thr89Ile | |
| ENST00000571691.6:c.266C>T | ENSP00000461407.2:p.Thr89Ile | |
| ENST00000571721.6:c.266C>T | ENSP00000460660.2:p.Thr89Ile | |
| ENST00000572105.7:c.266C>T | ENSP00000462823.1:p.Thr89Ile | |
| ENST00000573283.7:c.266C>T MANE Select | ENSP00000458435.1:p.Thr89Ile | |
| ENST00000574671.6:n.390C>T | ||
| ENST00000575659.6:c.266C>T | ENSP00000459119.2:p.Thr89Ile | |
| ENST00000575994.6:c.266C>T | ENSP00000460464.2:p.Thr89Ile | |
| ENST00000576214.3:n.390C>T | ||
| ENST00000576544.6:c.266C>T | ENSP00000461672.1:p.Thr89Ile | |
| ENST00000615544.5:c.266C>T | ENSP00000477968.1:p.Thr89Ile | |
| ENST00000644774.2:c.239C>T | ENSP00000493648.2:p.Thr80Ile | |
| ENST00000679410.1:n.390C>T | ||
| ENST00000679480.1:c.266C>T | ENSP00000506201.1:p.Thr89Ile | |
| ENST00000679535.1:n.390C>T | ||
| ENST00000679778.1:c.266C>T | ENSP00000505235.1:p.Thr89Ile | |
| ENST00000680227.1:c.266C>T | ENSP00000506253.1:p.Thr89Ile | |
| ENST00000680727.1:c.266C>T | ENSP00000505193.1:p.Thr89Ile | |
| ENST00000681052.1:c.266C>T | ENSP00000505060.1:p.Thr89Ile | |
| ENST00000681092.1:c.*70C>T | ENSP00000506720.1:n.*70C>T | |
| ENST00000681842.1:c.266C>T | ENSP00000506126.1:p.Thr89Ile | |
| ENST00000331925.6:c.266C>T | ENSP00000331514.2:p.Thr89Ile | |
| ENST00000570382.1:c.266C>T | ENSP00000466346.1:p.Thr89Ile | |
| ENST00000571691.5:c.239C>T | ENSP00000461407.1:p.Thr80Ile | |
| ENST00000571721.5:c.266C>T | ENSP00000460660.1:p.Thr89Ile | |
| ENST00000572105.6:c.266C>T | ENSP00000462823.1:p.Thr89Ile | |
| ENST00000573283.5:c.266C>T | ENSP00000458435.1:p.Thr89Ile | |
| ENST00000575087.5:c.266C>T | ENSP00000459124.1:p.Thr89Ile | |
| ENST00000575659.5:c.266C>T | ENSP00000459119.1:p.Thr89Ile | |
| ENST00000575842.5:c.266C>T | ENSP00000458162.1:p.Thr89Ile | |
| ENST00000575994.5:c.266C>T | ENSP00000460464.1:p.Thr89Ile | |
| ENST00000576209.5:n.151C>T | ||
| ENST00000576214.2:n.287C>T | ||
| ENST00000576544.5:c.266C>T | ENSP00000461672.1:p.Thr89Ile | |
| ENST00000576917.5:n.319C>T | ||
| ENST00000615544.4:c.266C>T | ENSP00000477968.1:p.Thr89Ile | |
| NM_001199954.1:c.266C>T | NP_001186883.1:p.Thr89Ile | |
| NM_001614.3:c.266C>T | NP_001605.1:p.Thr89Ile | |
| NR_037688.1:n.405C>T | ||
| NM_001199954.2:c.266C>T | NP_001186883.1:p.Thr89Ile | |
| NM_001614.4:c.266C>T | NP_001605.1:p.Thr89Ile | |
| NR_037688.2:n.338C>T | ||
| NM_001614.5:c.266C>T MANE Select | NP_001605.1:p.Thr89Ile | |
| NR_037688.3:n.338C>T | ||
| NM_001199954.3:c.266C>T | NP_001186883.1:p.Thr89Ile |