Linked Data
ClinVar Variation Id:
55594
dbSNP Id:
rs80357393
ExAC:
17:41197799 C / T
gnomAD v2:
17-41197799-C-T
gnomAD v4:
17-43045782-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045782C>T , CM000679.2:g.43045782C>T | GRCh38 |
| NC_000017.10:g.41197799C>T , CM000679.1:g.41197799C>T | GRCh37 |
| NC_000017.9:g.38451325C>T | NCBI36 |
| NG_005905.2:g.172202G>A , LRG_292:g.172202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5485G>A | ENSP00000417241.2:p.Ala1829Thr | |
| ENST00000470026.6:c.5488G>A | ENSP00000419274.2:p.Ala1830Thr | |
| ENST00000473961.6:c.5362G>A | ENSP00000420201.2:p.Ala1788Thr | |
| ENST00000476777.6:c.5482G>A | ENSP00000417554.2:p.Ala1828Thr | |
| ENST00000477152.6:c.5410G>A | ENSP00000419988.2:p.Ala1804Thr | |
| ENST00000478531.6:c.2176G>A | ENSP00000420412.2:p.Ala726Thr | |
| ENST00000489037.2:c.5410G>A | ENSP00000420781.2:p.Ala1804Thr | |
| ENST00000493919.6:c.2038G>A | ENSP00000418819.2:p.Ala680Thr | |
| ENST00000494123.6:c.5488G>A | ENSP00000419103.2:p.Ala1830Thr | |
| ENST00000497488.2:c.4600G>A | ENSP00000418986.2:p.Ala1534Thr | |
| ENST00000618469.2:c.5488G>A | ENSP00000478114.2:p.Ala1830Thr | |
| ENST00000634433.2:c.5365G>A | ENSP00000489431.2:p.Ala1789Thr | |
| ENST00000644379.2:c.5554G>A | ENSP00000496570.2:p.Ala1852Thr | |
| ENST00000644555.2:c.2038G>A | ENSP00000494614.2:p.Ala680Thr | |
| ENST00000652672.2:c.5347G>A | ENSP00000498906.2:p.Ala1783Thr | |
| ENST00000484087.6:c.2050G>A | ENSP00000419481.2:p.Ala684Thr | |
| ENST00000700081.1:n.1371G>A | ||
| ENST00000700082.1:n.852G>A | ||
| ENST00000357654.9:c.5488G>A MANE Select | ENSP00000350283.3:p.Ala1830Thr | |
| ENST00000471181.7:c.5551G>A | ENSP00000418960.2:p.Ala1851Thr | |
| ENST00000644379.1:c.1875G>A | ||
| ENST00000352993.7:c.2062G>A | ENSP00000312236.5:p.Ala688Thr | |
| ENST00000357654.7:c.5488G>A | ENSP00000350283.3:p.Ala1830Thr | |
| ENST00000461221.5:c.*5271G>A | ENSP00000418548.1:n.*5271G>A | |
| ENST00000468300.5:c.*2G>A | ENSP00000417148.1:n.*2G>A | |
| ENST00000471181.6:c.5551G>A | ENSP00000418960.2:p.Ala1851Thr | |
| ENST00000491747.6:c.2176G>A | ENSP00000420705.2:p.Ala726Thr | |
| ENST00000493795.5:c.5347G>A | ENSP00000418775.1:p.Ala1783Thr | |
| ENST00000586385.5:c.418G>A | ENSP00000465818.1:p.Ala140Thr | |
| ENST00000591534.5:c.961G>A | ENSP00000467329.1:p.Ala321Thr | |
| ENST00000591849.5:c.187G>A | ENSP00000465347.1:p.Ala63Thr | |
| NM_007294.3:c.5488G>A , LRG_292t1:c.5488G>A | NP_009225.1:p.Ala1830Thr | |
| NM_007297.3:c.5347G>A | NP_009228.2:p.Ala1783Thr | |
| NM_007298.3:c.2176G>A | NP_009229.2:p.Ala726Thr | |
| NM_007299.3:c.*2G>A | NP_009230.2:n.*2G>A | |
| NM_007300.3:c.5551G>A | NP_009231.2:p.Ala1851Thr | |
| NR_027676.1:n.5624G>A | ||
| NM_007294.4:c.5488G>A MANE Select | NP_009225.1:p.Ala1830Thr | |
| NM_007297.4:c.5347G>A | NP_009228.2:p.Ala1783Thr | |
| NM_007299.4:c.*2G>A | NP_009230.2:n.*2G>A | |
| NM_007300.4:c.5551G>A | NP_009231.2:p.Ala1851Thr | |
| NR_027676.2:n.5665G>A |