Linked Data
ClinVar Variation Id:
55552
dbSNP Id:
rs80357078
ExAC:
17:41201179 C / T
gnomAD v2:
17-41201179-C-T
gnomAD v4:
17-43049162-C-T
PubMed:
PMID:18680205
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049162C>T , CM000679.2:g.43049162C>T | GRCh38 |
| NC_000017.10:g.41201179C>T , CM000679.1:g.41201179C>T | GRCh37 |
| NC_000017.9:g.38454705C>T | NCBI36 |
| NG_005905.2:g.168822G>A , LRG_292:g.168822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5362G>A | ENSP00000417241.2:p.Ala1788Thr | |
| ENST00000470026.6:c.5365G>A | ENSP00000419274.2:p.Ala1789Thr | |
| ENST00000473961.6:c.5239G>A | ENSP00000420201.2:p.Ala1747Thr | |
| ENST00000476777.6:c.5359G>A | ENSP00000417554.2:p.Ala1787Thr | |
| ENST00000477152.6:c.5287G>A | ENSP00000419988.2:p.Ala1763Thr | |
| ENST00000478531.6:c.2053G>A | ENSP00000420412.2:p.Ala685Thr | |
| ENST00000489037.2:c.5287G>A | ENSP00000420781.2:p.Ala1763Thr | |
| ENST00000493919.6:c.1915G>A | ENSP00000418819.2:p.Ala639Thr | |
| ENST00000494123.6:c.5365G>A | ENSP00000419103.2:p.Ala1789Thr | |
| ENST00000497488.2:c.4477G>A | ENSP00000418986.2:p.Ala1493Thr | |
| ENST00000618469.2:c.5365G>A | ENSP00000478114.2:p.Ala1789Thr | |
| ENST00000634433.2:c.5242G>A | ENSP00000489431.2:p.Ala1748Thr | |
| ENST00000644379.2:c.5431G>A | ENSP00000496570.2:p.Ala1811Thr | |
| ENST00000644555.2:c.1915G>A | ENSP00000494614.2:p.Ala639Thr | |
| ENST00000652672.2:c.5224G>A | ENSP00000498906.2:p.Ala1742Thr | |
| ENST00000484087.6:c.1927G>A | ENSP00000419481.2:p.Ala643Thr | |
| ENST00000700081.1:n.1248G>A | ||
| ENST00000357654.9:c.5365G>A MANE Select | ENSP00000350283.3:p.Ala1789Thr | |
| ENST00000471181.7:c.5428G>A | ENSP00000418960.2:p.Ala1810Thr | |
| ENST00000644379.1:c.1752G>A | ||
| ENST00000352993.7:c.1939G>A | ENSP00000312236.5:p.Ala647Thr | |
| ENST00000357654.7:c.5365G>A | ENSP00000350283.3:p.Ala1789Thr | |
| ENST00000461221.5:c.*5148G>A | ENSP00000418548.1:n.*5148G>A | |
| ENST00000468300.5:c.2021-1459G>A | ENSP00000417148.1:n.2021-1459G>A | |
| ENST00000471181.6:c.5428G>A | ENSP00000418960.2:p.Ala1810Thr | |
| ENST00000491747.6:c.2053G>A | ENSP00000420705.2:p.Ala685Thr | |
| ENST00000493795.5:c.5224G>A | ENSP00000418775.1:p.Ala1742Thr | |
| ENST00000586385.5:c.295G>A | ENSP00000465818.1:p.Ala99Thr | |
| ENST00000591534.5:c.838G>A | ENSP00000467329.1:p.Ala280Thr | |
| ENST00000591849.5:c.64G>A | ENSP00000465347.1:p.Ala22Thr | |
| NM_007294.3:c.5365G>A , LRG_292t1:c.5365G>A | NP_009225.1:p.Ala1789Thr | |
| NM_007297.3:c.5224G>A | NP_009228.2:p.Ala1742Thr | |
| NM_007298.3:c.2053G>A | NP_009229.2:p.Ala685Thr | |
| NM_007299.3:c.2021-1459G>A | NP_009230.2:n.2021-1459G>A | |
| NM_007300.3:c.5428G>A | NP_009231.2:p.Ala1810Thr | |
| NR_027676.1:n.5501G>A | ||
| NM_007294.4:c.5365G>A MANE Select | NP_009225.1:p.Ala1789Thr | |
| NM_007297.4:c.5224G>A | NP_009228.2:p.Ala1742Thr | |
| NM_007299.4:c.2021-1459G>A | NP_009230.2:n.2021-1459G>A | |
| NM_007300.4:c.5428G>A | NP_009231.2:p.Ala1810Thr | |
| NR_027676.2:n.5542G>A |