Linked Data
ClinVar Variation Id:
54255
dbSNP Id:
rs80357489
gnomAD v2:
17-41246100-A-G
gnomAD v3:
17-43094083-A-G
gnomAD v4:
17-43094083-A-G
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094083A>G , CM000679.2:g.43094083A>G | GRCh38 |
| NC_000017.10:g.41246100A>G , CM000679.1:g.41246100A>G | GRCh37 |
| NC_000017.9:g.38499626A>G | NCBI36 |
| NG_005905.2:g.123901T>C , LRG_292:g.123901T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.1512T>C | ||
| ENST00000461574.2:c.1448T>C | ENSP00000417241.2:p.Ile483Thr | |
| ENST00000470026.6:c.1448T>C | ENSP00000419274.2:p.Ile483Thr | |
| ENST00000473961.6:c.1322T>C | ENSP00000420201.2:p.Ile441Thr | |
| ENST00000476777.6:c.1445T>C | ENSP00000417554.2:p.Ile482Thr | |
| ENST00000477152.6:c.1370T>C | ENSP00000419988.2:p.Ile457Thr | |
| ENST00000478531.6:c.784+661T>C | ENSP00000420412.2:n.784+661T>C | |
| ENST00000489037.2:c.1370T>C | ENSP00000420781.2:p.Ile457Thr | |
| ENST00000493919.6:c.646+661T>C | ENSP00000418819.2:n.646+661T>C | |
| ENST00000494123.6:c.1448T>C | ENSP00000419103.2:p.Ile483Thr | |
| ENST00000497488.2:c.560T>C | ENSP00000418986.2:p.Ile187Thr | |
| ENST00000618469.2:c.1448T>C | ENSP00000478114.2:p.Ile483Thr | |
| ENST00000634433.2:c.1325T>C | ENSP00000489431.2:p.Ile442Thr | |
| ENST00000644379.2:c.1448T>C | ENSP00000496570.2:p.Ile483Thr | |
| ENST00000644555.2:c.646+661T>C | ENSP00000494614.2:n.646+661T>C | |
| ENST00000652672.2:c.1307T>C | ENSP00000498906.2:p.Ile436Thr | |
| ENST00000484087.6:c.664+661T>C | ENSP00000419481.2:n.664+661T>C | |
| ENST00000700182.1:c.706+661T>C | ENSP00000514849.1:n.706+661T>C | |
| ENST00000700183.1:c.*1456T>C | ENSP00000514850.1:n.*1456T>C | |
| ENST00000357654.9:c.1448T>C MANE Select | ENSP00000350283.3:p.Ile483Thr | |
| ENST00000471181.7:c.1448T>C | ENSP00000418960.2:p.Ile483Thr | |
| ENST00000652672.1:c.1307T>C | ENSP00000498906.1:p.Ile436Thr | |
| ENST00000352993.7:c.670+1763T>C | ENSP00000312236.5:n.670+1763T>C | |
| ENST00000354071.7:c.1448T>C | ENSP00000326002.7:p.Ile483Thr | |
| ENST00000357654.7:c.1448T>C | ENSP00000350283.3:p.Ile483Thr | |
| ENST00000412061.3:c.799T>C | ||
| ENST00000461221.5:c.*1231T>C | ENSP00000418548.1:n.*1231T>C | |
| ENST00000468300.5:c.787+661T>C | ENSP00000417148.1:n.787+661T>C | |
| ENST00000470026.5:c.1448T>C | ENSP00000419274.1:p.Ile483Thr | |
| ENST00000471181.6:c.1448T>C | ENSP00000418960.2:p.Ile483Thr | |
| ENST00000477152.5:c.1370T>C | ENSP00000419988.1:p.Ile457Thr | |
| ENST00000478531.5:c.784+661T>C | ENSP00000420412.1:n.784+661T>C | |
| ENST00000484087.5:c.409+661T>C | ENSP00000419481.1:n.409+661T>C | |
| ENST00000487825.5:c.412+661T>C | ENSP00000418212.1:n.412+661T>C | |
| ENST00000491747.6:c.787+661T>C | ENSP00000420705.2:n.787+661T>C | |
| ENST00000493795.5:c.1307T>C | ENSP00000418775.1:p.Ile436Thr | |
| ENST00000493919.5:c.646+661T>C | ENSP00000418819.1:n.646+661T>C | |
| ENST00000586385.5:c.5-30132T>C | ENSP00000465818.1:n.5-30132T>C | |
| ENST00000591534.5:c.-43-19562T>C | ENSP00000467329.1:n.-43-19562T>C | |
| ENST00000591849.5:c.-99+31188T>C | ENSP00000465347.1:n.-99+31188T>C | |
| ENST00000634433.1:c.1325T>C | ENSP00000489431.1:p.Ile442Thr | |
| NM_007294.3:c.1448T>C , LRG_292t1:c.1448T>C | NP_009225.1:p.Ile483Thr | |
| NM_007297.3:c.1307T>C | NP_009228.2:p.Ile436Thr | |
| NM_007298.3:c.787+661T>C | NP_009229.2:n.787+661T>C | |
| NM_007299.3:c.787+661T>C | NP_009230.2:n.787+661T>C | |
| NM_007300.3:c.1448T>C | NP_009231.2:p.Ile483Thr | |
| NR_027676.1:n.1584T>C | ||
| NM_007294.4:c.1448T>C MANE Select | NP_009225.1:p.Ile483Thr | |
| NM_007297.4:c.1307T>C | NP_009228.2:p.Ile436Thr | |
| NM_007299.4:c.787+661T>C | NP_009230.2:n.787+661T>C | |
| NM_007300.4:c.1448T>C | NP_009231.2:p.Ile483Thr | |
| NR_027676.2:n.1625T>C |