Linked Data
ClinVar Variation Id:
55365
dbSNP Id:
rs80357043
gnomAD v3:
17-43067628-G-A
gnomAD v4:
17-43067628-G-A
PubMed:
PMID:20513136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067628G>A , CM000679.2:g.43067628G>A | GRCh38 |
| NC_000017.10:g.41219645G>A , CM000679.1:g.41219645G>A | GRCh37 |
| NC_000017.9:g.38473171G>A | NCBI36 |
| NG_005905.2:g.150356C>T , LRG_292:g.150356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5051C>T | ENSP00000417241.2:p.Thr1684Ile | |
| ENST00000470026.6:c.5054C>T | ENSP00000419274.2:p.Thr1685Ile | |
| ENST00000473961.6:c.4928C>T | ENSP00000420201.2:p.Thr1643Ile | |
| ENST00000476777.6:c.5048C>T | ENSP00000417554.2:p.Thr1683Ile | |
| ENST00000477152.6:c.4976C>T | ENSP00000419988.2:p.Thr1659Ile | |
| ENST00000478531.6:c.1742C>T | ENSP00000420412.2:p.Thr581Ile | |
| ENST00000489037.2:c.4976C>T | ENSP00000420781.2:p.Thr1659Ile | |
| ENST00000493919.6:c.1604C>T | ENSP00000418819.2:p.Thr535Ile | |
| ENST00000494123.6:c.5054C>T | ENSP00000419103.2:p.Thr1685Ile | |
| ENST00000497488.2:c.4166C>T | ENSP00000418986.2:p.Thr1389Ile | |
| ENST00000618469.2:c.5054C>T | ENSP00000478114.2:p.Thr1685Ile | |
| ENST00000634433.2:c.4931C>T | ENSP00000489431.2:p.Thr1644Ile | |
| ENST00000644379.2:c.5120C>T | ENSP00000496570.2:p.Thr1707Ile | |
| ENST00000644555.2:c.1604C>T | ENSP00000494614.2:p.Thr535Ile | |
| ENST00000652672.2:c.4913C>T | ENSP00000498906.2:p.Thr1638Ile | |
| ENST00000484087.6:c.1616C>T | ENSP00000419481.2:p.Thr539Ile | |
| ENST00000357654.9:c.5054C>T MANE Select | ENSP00000350283.3:p.Thr1685Ile | |
| ENST00000471181.7:c.5117C>T | ENSP00000418960.2:p.Thr1706Ile | |
| ENST00000644379.1:c.1441C>T | ||
| ENST00000352993.7:c.1628C>T | ENSP00000312236.5:p.Thr543Ile | |
| ENST00000357654.7:c.5054C>T | ENSP00000350283.3:p.Thr1685Ile | |
| ENST00000461221.5:c.*4837C>T | ENSP00000418548.1:n.*4837C>T | |
| ENST00000468300.5:c.1742C>T | ENSP00000417148.1:p.Thr581Ile | |
| ENST00000471181.6:c.5117C>T | ENSP00000418960.2:p.Thr1706Ile | |
| ENST00000472490.1:n.207C>T | ||
| ENST00000478531.5:c.1742C>T | ENSP00000420412.1:p.Thr581Ile | |
| ENST00000484087.5:c.1367C>T | ENSP00000419481.1:p.Thr456Ile | |
| ENST00000491747.6:c.1742C>T | ENSP00000420705.2:p.Thr581Ile | |
| ENST00000493795.5:c.4913C>T | ENSP00000418775.1:p.Thr1638Ile | |
| ENST00000493919.5:c.1604C>T | ENSP00000418819.1:p.Thr535Ile | |
| ENST00000586385.5:c.5-3677C>T | ENSP00000465818.1:n.5-3677C>T | |
| ENST00000591534.5:c.527C>T | ENSP00000467329.1:p.Thr176Ile | |
| ENST00000591849.5:c.-98-17438C>T | ENSP00000465347.1:n.-98-17438C>T | |
| NM_007294.3:c.5054C>T , LRG_292t1:c.5054C>T | NP_009225.1:p.Thr1685Ile | |
| NM_007297.3:c.4913C>T | NP_009228.2:p.Thr1638Ile | |
| NM_007298.3:c.1742C>T | NP_009229.2:p.Thr581Ile | |
| NM_007299.3:c.1742C>T | NP_009230.2:p.Thr581Ile | |
| NM_007300.3:c.5117C>T | NP_009231.2:p.Thr1706Ile | |
| NR_027676.1:n.5190C>T | ||
| NM_007294.4:c.5054C>T MANE Select | NP_009225.1:p.Thr1685Ile | |
| NM_007297.4:c.4913C>T | NP_009228.2:p.Thr1638Ile | |
| NM_007299.4:c.1742C>T | NP_009230.2:p.Thr581Ile | |
| NM_007300.4:c.5117C>T | NP_009231.2:p.Thr1706Ile | |
| NR_027676.2:n.5231C>T |