Linked Data
ClinVar Variation Id:
231376
dbSNP Id:
rs876659122
gnomAD v2:
17-41209125-C-T
gnomAD v4:
17-43057108-C-T
PubMed:
PMID:19452558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43057108C>T , CM000679.2:g.43057108C>T | GRCh38 |
| NC_000017.10:g.41209125C>T , CM000679.1:g.41209125C>T | GRCh37 |
| NC_000017.9:g.38462651C>T | NCBI36 |
| NG_005905.2:g.160876G>A , LRG_292:g.160876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5218G>A | ENSP00000417241.2:p.Val1740Ile | |
| ENST00000470026.6:c.5221G>A | ENSP00000419274.2:p.Val1741Ile | |
| ENST00000473961.6:c.5095G>A | ENSP00000420201.2:p.Val1699Ile | |
| ENST00000476777.6:c.5215G>A | ENSP00000417554.2:p.Val1739Ile | |
| ENST00000477152.6:c.5143G>A | ENSP00000419988.2:p.Val1715Ile | |
| ENST00000478531.6:c.1909G>A | ENSP00000420412.2:p.Val637Ile | |
| ENST00000489037.2:c.5143G>A | ENSP00000420781.2:p.Val1715Ile | |
| ENST00000493919.6:c.1771G>A | ENSP00000418819.2:p.Val591Ile | |
| ENST00000494123.6:c.5221G>A | ENSP00000419103.2:p.Val1741Ile | |
| ENST00000497488.2:c.4333G>A | ENSP00000418986.2:p.Val1445Ile | |
| ENST00000618469.2:c.5221G>A | ENSP00000478114.2:p.Val1741Ile | |
| ENST00000634433.2:c.5098G>A | ENSP00000489431.2:p.Val1700Ile | |
| ENST00000644379.2:c.5287G>A | ENSP00000496570.2:p.Val1763Ile | |
| ENST00000644555.2:c.1771G>A | ENSP00000494614.2:p.Val591Ile | |
| ENST00000652672.2:c.5080G>A | ENSP00000498906.2:p.Val1694Ile | |
| ENST00000484087.6:c.1783G>A | ENSP00000419481.2:p.Val595Ile | |
| ENST00000357654.9:c.5221G>A MANE Select | ENSP00000350283.3:p.Val1741Ile | |
| ENST00000471181.7:c.5284G>A | ENSP00000418960.2:p.Val1762Ile | |
| ENST00000644379.1:c.1608G>A | ||
| ENST00000352993.7:c.1795G>A | ENSP00000312236.5:p.Val599Ile | |
| ENST00000357654.7:c.5221G>A | ENSP00000350283.3:p.Val1741Ile | |
| ENST00000461221.5:c.*5004G>A | ENSP00000418548.1:n.*5004G>A | |
| ENST00000468300.5:c.1909G>A | ENSP00000417148.1:p.Val637Ile | |
| ENST00000471181.6:c.5284G>A | ENSP00000418960.2:p.Val1762Ile | |
| ENST00000491747.6:c.1909G>A | ENSP00000420705.2:p.Val637Ile | |
| ENST00000493795.5:c.5080G>A | ENSP00000418775.1:p.Val1694Ile | |
| ENST00000586385.5:c.151G>A | ENSP00000465818.1:p.Val51Ile | |
| ENST00000591534.5:c.694G>A | ENSP00000467329.1:p.Val232Ile | |
| ENST00000591849.5:c.-98-6918G>A | ENSP00000465347.1:n.-98-6918G>A | |
| NM_007294.3:c.5221G>A , LRG_292t1:c.5221G>A | NP_009225.1:p.Val1741Ile | |
| NM_007297.3:c.5080G>A | NP_009228.2:p.Val1694Ile | |
| NM_007298.3:c.1909G>A | NP_009229.2:p.Val637Ile | |
| NM_007299.3:c.1909G>A | NP_009230.2:p.Val637Ile | |
| NM_007300.3:c.5284G>A | NP_009231.2:p.Val1762Ile | |
| NR_027676.1:n.5357G>A | ||
| NM_007294.4:c.5221G>A MANE Select | NP_009225.1:p.Val1741Ile | |
| NM_007297.4:c.5080G>A | NP_009228.2:p.Val1694Ile | |
| NM_007299.4:c.1909G>A | NP_009230.2:p.Val637Ile | |
| NM_007300.4:c.5284G>A | NP_009231.2:p.Val1762Ile | |
| NR_027676.2:n.5398G>A |