Linked Data
ClinVar Variation Id:
491072
ClinVar RCV Id:
RCV000582152
dbSNP Id:
rs765183110
ExAC:
17:41234544 C / T
gnomAD v2:
17-41234544-C-T
gnomAD v4:
17-43082527-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082527C>T , CM000679.2:g.43082527C>T | GRCh38 |
| NC_000017.10:g.41234544C>T , CM000679.1:g.41234544C>T | GRCh37 |
| NC_000017.9:g.38488070C>T | NCBI36 |
| NG_005905.2:g.135457G>A , LRG_292:g.135457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4234G>A | ENSP00000417241.2:p.Ala1412Thr | |
| ENST00000470026.6:c.4234G>A | ENSP00000419274.2:p.Ala1412Thr | |
| ENST00000473961.6:c.4108G>A | ENSP00000420201.2:p.Ala1370Thr | |
| ENST00000476777.6:c.4228G>A | ENSP00000417554.2:p.Ala1410Thr | |
| ENST00000477152.6:c.4156G>A | ENSP00000419988.2:p.Ala1386Thr | |
| ENST00000478531.6:c.922G>A | ENSP00000420412.2:p.Ala308Thr | |
| ENST00000489037.2:c.4156G>A | ENSP00000420781.2:p.Ala1386Thr | |
| ENST00000493919.6:c.784G>A | ENSP00000418819.2:p.Ala262Thr | |
| ENST00000494123.6:c.4234G>A | ENSP00000419103.2:p.Ala1412Thr | |
| ENST00000497488.2:c.3346G>A | ENSP00000418986.2:p.Ala1116Thr | |
| ENST00000618469.2:c.4234G>A | ENSP00000478114.2:p.Ala1412Thr | |
| ENST00000634433.2:c.4111G>A | ENSP00000489431.2:p.Ala1371Thr | |
| ENST00000644379.2:c.4234G>A | ENSP00000496570.2:p.Ala1412Thr | |
| ENST00000644555.2:c.784G>A | ENSP00000494614.2:p.Ala262Thr | |
| ENST00000652672.2:c.4093G>A | ENSP00000498906.2:p.Ala1365Thr | |
| ENST00000484087.6:c.799G>A | ENSP00000419481.2:p.Ala267Thr | |
| ENST00000700182.1:c.844G>A | ENSP00000514849.1:p.Ala282Thr | |
| ENST00000357654.9:c.4234G>A MANE Select | ENSP00000350283.3:p.Ala1412Thr | |
| ENST00000471181.7:c.4234G>A | ENSP00000418960.2:p.Ala1412Thr | |
| ENST00000644379.1:c.555G>A | ||
| ENST00000352993.7:c.808G>A | ENSP00000312236.5:p.Ala270Thr | |
| ENST00000357654.7:c.4234G>A | ENSP00000350283.3:p.Ala1412Thr | |
| ENST00000461221.5:c.*4017G>A | ENSP00000418548.1:n.*4017G>A | |
| ENST00000461574.1:c.528G>A | ||
| ENST00000468300.5:c.925G>A | ENSP00000417148.1:p.Ala309Thr | |
| ENST00000471181.6:c.4234G>A | ENSP00000418960.2:p.Ala1412Thr | |
| ENST00000478531.5:c.922G>A | ENSP00000420412.1:p.Ala308Thr | |
| ENST00000484087.5:c.547G>A | ENSP00000419481.1:p.Ala183Thr | |
| ENST00000487825.5:c.550G>A | ENSP00000418212.1:p.Ala184Thr | |
| ENST00000491747.6:c.925G>A | ENSP00000420705.2:p.Ala309Thr | |
| ENST00000493795.5:c.4093G>A | ENSP00000418775.1:p.Ala1365Thr | |
| ENST00000493919.5:c.784G>A | ENSP00000418819.1:p.Ala262Thr | |
| ENST00000586385.5:c.5-18576G>A | ENSP00000465818.1:n.5-18576G>A | |
| ENST00000591534.5:c.-43-8006G>A | ENSP00000467329.1:n.-43-8006G>A | |
| ENST00000591849.5:c.-98-32337G>A | ENSP00000465347.1:n.-98-32337G>A | |
| ENST00000621897.1:n.128G>A | ||
| NM_007294.3:c.4234G>A , LRG_292t1:c.4234G>A | NP_009225.1:p.Ala1412Thr | |
| NM_007297.3:c.4093G>A | NP_009228.2:p.Ala1365Thr | |
| NM_007298.3:c.925G>A | NP_009229.2:p.Ala309Thr | |
| NM_007299.3:c.925G>A | NP_009230.2:p.Ala309Thr | |
| NM_007300.3:c.4234G>A | NP_009231.2:p.Ala1412Thr | |
| NR_027676.1:n.4370G>A | ||
| NM_007294.4:c.4234G>A MANE Select | NP_009225.1:p.Ala1412Thr | |
| NM_007297.4:c.4093G>A | NP_009228.2:p.Ala1365Thr | |
| NM_007299.4:c.925G>A | NP_009230.2:p.Ala309Thr | |
| NM_007300.4:c.4234G>A | NP_009231.2:p.Ala1412Thr | |
| NR_027676.2:n.4411G>A |