Linked Data
ClinVar Variation Id:
188416
dbSNP Id:
rs766784305
ExAC:
17:41219657 G / A
gnomAD v2:
17-41219657-G-A
gnomAD v4:
17-43067640-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067640G>A , CM000679.2:g.43067640G>A | GRCh38 |
| NC_000017.10:g.41219657G>A , CM000679.1:g.41219657G>A | GRCh37 |
| NC_000017.9:g.38473183G>A | NCBI36 |
| NG_005905.2:g.150344C>T , LRG_292:g.150344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5039C>T | ENSP00000417241.2:p.Thr1680Ile | |
| ENST00000470026.6:c.5042C>T | ENSP00000419274.2:p.Thr1681Ile | |
| ENST00000473961.6:c.4916C>T | ENSP00000420201.2:p.Thr1639Ile | |
| ENST00000476777.6:c.5036C>T | ENSP00000417554.2:p.Thr1679Ile | |
| ENST00000477152.6:c.4964C>T | ENSP00000419988.2:p.Thr1655Ile | |
| ENST00000478531.6:c.1730C>T | ENSP00000420412.2:p.Thr577Ile | |
| ENST00000489037.2:c.4964C>T | ENSP00000420781.2:p.Thr1655Ile | |
| ENST00000493919.6:c.1592C>T | ENSP00000418819.2:p.Thr531Ile | |
| ENST00000494123.6:c.5042C>T | ENSP00000419103.2:p.Thr1681Ile | |
| ENST00000497488.2:c.4154C>T | ENSP00000418986.2:p.Thr1385Ile | |
| ENST00000618469.2:c.5042C>T | ENSP00000478114.2:p.Thr1681Ile | |
| ENST00000634433.2:c.4919C>T | ENSP00000489431.2:p.Thr1640Ile | |
| ENST00000644379.2:c.5108C>T | ENSP00000496570.2:p.Thr1703Ile | |
| ENST00000644555.2:c.1592C>T | ENSP00000494614.2:p.Thr531Ile | |
| ENST00000652672.2:c.4901C>T | ENSP00000498906.2:p.Thr1634Ile | |
| ENST00000484087.6:c.1604C>T | ENSP00000419481.2:p.Thr535Ile | |
| ENST00000357654.9:c.5042C>T MANE Select | ENSP00000350283.3:p.Thr1681Ile | |
| ENST00000471181.7:c.5105C>T | ENSP00000418960.2:p.Thr1702Ile | |
| ENST00000644379.1:c.1429C>T | ||
| ENST00000352993.7:c.1616C>T | ENSP00000312236.5:p.Thr539Ile | |
| ENST00000357654.7:c.5042C>T | ENSP00000350283.3:p.Thr1681Ile | |
| ENST00000461221.5:c.*4825C>T | ENSP00000418548.1:n.*4825C>T | |
| ENST00000468300.5:c.1730C>T | ENSP00000417148.1:p.Thr577Ile | |
| ENST00000471181.6:c.5105C>T | ENSP00000418960.2:p.Thr1702Ile | |
| ENST00000472490.1:n.195C>T | ||
| ENST00000478531.5:c.1730C>T | ENSP00000420412.1:p.Thr577Ile | |
| ENST00000484087.5:c.1355C>T | ENSP00000419481.1:p.Thr452Ile | |
| ENST00000491747.6:c.1730C>T | ENSP00000420705.2:p.Thr577Ile | |
| ENST00000493795.5:c.4901C>T | ENSP00000418775.1:p.Thr1634Ile | |
| ENST00000493919.5:c.1592C>T | ENSP00000418819.1:p.Thr531Ile | |
| ENST00000586385.5:c.5-3689C>T | ENSP00000465818.1:n.5-3689C>T | |
| ENST00000591534.5:c.515C>T | ENSP00000467329.1:p.Thr172Ile | |
| ENST00000591849.5:c.-98-17450C>T | ENSP00000465347.1:n.-98-17450C>T | |
| NM_007294.3:c.5042C>T , LRG_292t1:c.5042C>T | NP_009225.1:p.Thr1681Ile | |
| NM_007297.3:c.4901C>T | NP_009228.2:p.Thr1634Ile | |
| NM_007298.3:c.1730C>T | NP_009229.2:p.Thr577Ile | |
| NM_007299.3:c.1730C>T | NP_009230.2:p.Thr577Ile | |
| NM_007300.3:c.5105C>T | NP_009231.2:p.Thr1702Ile | |
| NR_027676.1:n.5178C>T | ||
| NM_007294.4:c.5042C>T MANE Select | NP_009225.1:p.Thr1681Ile | |
| NM_007297.4:c.4901C>T | NP_009228.2:p.Thr1634Ile | |
| NM_007299.4:c.1730C>T | NP_009230.2:p.Thr577Ile | |
| NM_007300.4:c.5105C>T | NP_009231.2:p.Thr1702Ile | |
| NR_027676.2:n.5219C>T |