Linked Data
ClinVar Variation Id:
37626
dbSNP Id:
rs397507239
gnomAD v2:
17-41219631-T-A
gnomAD v4:
17-43067614-T-A
PubMed:
PMID:22333603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067614T>A , CM000679.2:g.43067614T>A | GRCh38 |
| NC_000017.10:g.41219631T>A , CM000679.1:g.41219631T>A | GRCh37 |
| NC_000017.9:g.38473157T>A | NCBI36 |
| NG_005905.2:g.150370A>T , LRG_292:g.150370A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5065A>T | ENSP00000417241.2:p.Lys1689Ter | |
| ENST00000470026.6:c.5068A>T | ENSP00000419274.2:p.Lys1690Ter | |
| ENST00000473961.6:c.4942A>T | ENSP00000420201.2:p.Lys1648Ter | |
| ENST00000476777.6:c.5062A>T | ENSP00000417554.2:p.Lys1688Ter | |
| ENST00000477152.6:c.4990A>T | ENSP00000419988.2:p.Lys1664Ter | |
| ENST00000478531.6:c.1756A>T | ENSP00000420412.2:p.Lys586Ter | |
| ENST00000489037.2:c.4990A>T | ENSP00000420781.2:p.Lys1664Ter | |
| ENST00000493919.6:c.1618A>T | ENSP00000418819.2:p.Lys540Ter | |
| ENST00000494123.6:c.5068A>T | ENSP00000419103.2:p.Lys1690Ter | |
| ENST00000497488.2:c.4180A>T | ENSP00000418986.2:p.Lys1394Ter | |
| ENST00000618469.2:c.5068A>T | ENSP00000478114.2:p.Lys1690Ter | |
| ENST00000634433.2:c.4945A>T | ENSP00000489431.2:p.Lys1649Ter | |
| ENST00000644379.2:c.5134A>T | ENSP00000496570.2:p.Lys1712Ter | |
| ENST00000644555.2:c.1618A>T | ENSP00000494614.2:p.Lys540Ter | |
| ENST00000652672.2:c.4927A>T | ENSP00000498906.2:p.Lys1643Ter | |
| ENST00000484087.6:c.1630A>T | ENSP00000419481.2:p.Lys544Ter | |
| ENST00000357654.9:c.5068A>T MANE Select | ENSP00000350283.3:p.Lys1690Ter | |
| ENST00000471181.7:c.5131A>T | ENSP00000418960.2:p.Lys1711Ter | |
| ENST00000644379.1:c.1455A>T | ||
| ENST00000352993.7:c.1642A>T | ENSP00000312236.5:p.Lys548Ter | |
| ENST00000357654.7:c.5068A>T | ENSP00000350283.3:p.Lys1690Ter | |
| ENST00000461221.5:c.*4851A>T | ENSP00000418548.1:n.*4851A>T | |
| ENST00000468300.5:c.1756A>T | ENSP00000417148.1:p.Lys586Ter | |
| ENST00000471181.6:c.5131A>T | ENSP00000418960.2:p.Lys1711Ter | |
| ENST00000472490.1:n.221A>T | ||
| ENST00000478531.5:c.1756A>T | ENSP00000420412.1:p.Lys586Ter | |
| ENST00000484087.5:c.1381A>T | ENSP00000419481.1:p.Lys461Ter | |
| ENST00000491747.6:c.1756A>T | ENSP00000420705.2:p.Lys586Ter | |
| ENST00000493795.5:c.4927A>T | ENSP00000418775.1:p.Lys1643Ter | |
| ENST00000493919.5:c.1618A>T | ENSP00000418819.1:p.Lys540Ter | |
| ENST00000586385.5:c.5-3663A>T | ENSP00000465818.1:n.5-3663A>T | |
| ENST00000591534.5:c.541A>T | ENSP00000467329.1:p.Lys181Ter | |
| ENST00000591849.5:c.-98-17424A>T | ENSP00000465347.1:n.-98-17424A>T | |
| NM_007294.3:c.5068A>T , LRG_292t1:c.5068A>T | NP_009225.1:p.Lys1690Ter | |
| NM_007297.3:c.4927A>T | NP_009228.2:p.Lys1643Ter | |
| NM_007298.3:c.1756A>T | NP_009229.2:p.Lys586Ter | |
| NM_007299.3:c.1756A>T | NP_009230.2:p.Lys586Ter | |
| NM_007300.3:c.5131A>T | NP_009231.2:p.Lys1711Ter | |
| NR_027676.1:n.5204A>T | ||
| NM_007294.4:c.5068A>T MANE Select | NP_009225.1:p.Lys1690Ter | |
| NM_007297.4:c.4927A>T | NP_009228.2:p.Lys1643Ter | |
| NM_007299.4:c.1756A>T | NP_009230.2:p.Lys586Ter | |
| NM_007300.4:c.5131A>T | NP_009231.2:p.Lys1711Ter | |
| NR_027676.2:n.5245A>T |