Linked Data
ClinVar Variation Id:
55370
ClinVar RCV Id:
RCV000048756
RCV000077592
RCV000130370
RCV000240688
RCV000225765
RCV000656791
RCV000765357
RCV001353418
dbSNP Id:
rs397507239
ExAC:
17:41219631 T / G
gnomAD v2:
17-41219631-T-G
gnomAD v3:
17-43067614-T-G
gnomAD v4:
17-43067614-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067614T>G , CM000679.2:g.43067614T>G | GRCh38 |
| NC_000017.10:g.41219631T>G , CM000679.1:g.41219631T>G | GRCh37 |
| NC_000017.9:g.38473157T>G | NCBI36 |
| NG_005905.2:g.150370A>C , LRG_292:g.150370A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5065A>C | ENSP00000417241.2:p.Lys1689Gln | |
| ENST00000470026.6:c.5068A>C | ENSP00000419274.2:p.Lys1690Gln | |
| ENST00000473961.6:c.4942A>C | ENSP00000420201.2:p.Lys1648Gln | |
| ENST00000476777.6:c.5062A>C | ENSP00000417554.2:p.Lys1688Gln | |
| ENST00000477152.6:c.4990A>C | ENSP00000419988.2:p.Lys1664Gln | |
| ENST00000478531.6:c.1756A>C | ENSP00000420412.2:p.Lys586Gln | |
| ENST00000489037.2:c.4990A>C | ENSP00000420781.2:p.Lys1664Gln | |
| ENST00000493919.6:c.1618A>C | ENSP00000418819.2:p.Lys540Gln | |
| ENST00000494123.6:c.5068A>C | ENSP00000419103.2:p.Lys1690Gln | |
| ENST00000497488.2:c.4180A>C | ENSP00000418986.2:p.Lys1394Gln | |
| ENST00000618469.2:c.5068A>C | ENSP00000478114.2:p.Lys1690Gln | |
| ENST00000634433.2:c.4945A>C | ENSP00000489431.2:p.Lys1649Gln | |
| ENST00000644379.2:c.5134A>C | ENSP00000496570.2:p.Lys1712Gln | |
| ENST00000644555.2:c.1618A>C | ENSP00000494614.2:p.Lys540Gln | |
| ENST00000652672.2:c.4927A>C | ENSP00000498906.2:p.Lys1643Gln | |
| ENST00000484087.6:c.1630A>C | ENSP00000419481.2:p.Lys544Gln | |
| ENST00000357654.9:c.5068A>C MANE Select | ENSP00000350283.3:p.Lys1690Gln | |
| ENST00000471181.7:c.5131A>C | ENSP00000418960.2:p.Lys1711Gln | |
| ENST00000644379.1:c.1455A>C | ||
| ENST00000352993.7:c.1642A>C | ENSP00000312236.5:p.Lys548Gln | |
| ENST00000357654.7:c.5068A>C | ENSP00000350283.3:p.Lys1690Gln | |
| ENST00000461221.5:c.*4851A>C | ENSP00000418548.1:n.*4851A>C | |
| ENST00000468300.5:c.1756A>C | ENSP00000417148.1:p.Lys586Gln | |
| ENST00000471181.6:c.5131A>C | ENSP00000418960.2:p.Lys1711Gln | |
| ENST00000472490.1:n.221A>C | ||
| ENST00000478531.5:c.1756A>C | ENSP00000420412.1:p.Lys586Gln | |
| ENST00000484087.5:c.1381A>C | ENSP00000419481.1:p.Lys461Gln | |
| ENST00000491747.6:c.1756A>C | ENSP00000420705.2:p.Lys586Gln | |
| ENST00000493795.5:c.4927A>C | ENSP00000418775.1:p.Lys1643Gln | |
| ENST00000493919.5:c.1618A>C | ENSP00000418819.1:p.Lys540Gln | |
| ENST00000586385.5:c.5-3663A>C | ENSP00000465818.1:n.5-3663A>C | |
| ENST00000591534.5:c.541A>C | ENSP00000467329.1:p.Lys181Gln | |
| ENST00000591849.5:c.-98-17424A>C | ENSP00000465347.1:n.-98-17424A>C | |
| NM_007294.3:c.5068A>C , LRG_292t1:c.5068A>C | NP_009225.1:p.Lys1690Gln | |
| NM_007297.3:c.4927A>C | NP_009228.2:p.Lys1643Gln | |
| NM_007298.3:c.1756A>C | NP_009229.2:p.Lys586Gln | |
| NM_007299.3:c.1756A>C | NP_009230.2:p.Lys586Gln | |
| NM_007300.3:c.5131A>C | NP_009231.2:p.Lys1711Gln | |
| NR_027676.1:n.5204A>C | ||
| NM_007294.4:c.5068A>C MANE Select | NP_009225.1:p.Lys1690Gln | |
| NM_007297.4:c.4927A>C | NP_009228.2:p.Lys1643Gln | |
| NM_007299.4:c.1756A>C | NP_009230.2:p.Lys586Gln | |
| NM_007300.4:c.5131A>C | NP_009231.2:p.Lys1711Gln | |
| NR_027676.2:n.5245A>C |