Linked Data
ClinVar Variation Id:
409313
dbSNP Id:
rs886040272
gnomAD v3:
17-43063895-T-G
gnomAD v4:
17-43063895-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063895T>G , CM000679.2:g.43063895T>G | GRCh38 |
| NC_000017.10:g.41215912T>G , CM000679.1:g.41215912T>G | GRCh37 |
| NC_000017.9:g.38469438T>G | NCBI36 |
| NG_005905.2:g.154089A>C , LRG_292:g.154089A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5128A>C | ENSP00000417241.2:p.Lys1710Gln | |
| ENST00000470026.6:c.5131A>C | ENSP00000419274.2:p.Lys1711Gln | |
| ENST00000473961.6:c.5005A>C | ENSP00000420201.2:p.Lys1669Gln | |
| ENST00000476777.6:c.5125A>C | ENSP00000417554.2:p.Lys1709Gln | |
| ENST00000477152.6:c.5053A>C | ENSP00000419988.2:p.Lys1685Gln | |
| ENST00000478531.6:c.1819A>C | ENSP00000420412.2:p.Lys607Gln | |
| ENST00000489037.2:c.5053A>C | ENSP00000420781.2:p.Lys1685Gln | |
| ENST00000493919.6:c.1681A>C | ENSP00000418819.2:p.Lys561Gln | |
| ENST00000494123.6:c.5131A>C | ENSP00000419103.2:p.Lys1711Gln | |
| ENST00000497488.2:c.4243A>C | ENSP00000418986.2:p.Lys1415Gln | |
| ENST00000618469.2:c.5131A>C | ENSP00000478114.2:p.Lys1711Gln | |
| ENST00000634433.2:c.5008A>C | ENSP00000489431.2:p.Lys1670Gln | |
| ENST00000644379.2:c.5197A>C | ENSP00000496570.2:p.Lys1733Gln | |
| ENST00000644555.2:c.1681A>C | ENSP00000494614.2:p.Lys561Gln | |
| ENST00000652672.2:c.4990A>C | ENSP00000498906.2:p.Lys1664Gln | |
| ENST00000484087.6:c.1693A>C | ENSP00000419481.2:p.Lys565Gln | |
| ENST00000357654.9:c.5131A>C MANE Select | ENSP00000350283.3:p.Lys1711Gln | |
| ENST00000471181.7:c.5194A>C | ENSP00000418960.2:p.Lys1732Gln | |
| ENST00000644379.1:c.1518A>C | ||
| ENST00000352993.7:c.1705A>C | ENSP00000312236.5:p.Lys569Gln | |
| ENST00000357654.7:c.5131A>C | ENSP00000350283.3:p.Lys1711Gln | |
| ENST00000461221.5:c.*4914A>C | ENSP00000418548.1:n.*4914A>C | |
| ENST00000468300.5:c.1819A>C | ENSP00000417148.1:p.Lys607Gln | |
| ENST00000471181.6:c.5194A>C | ENSP00000418960.2:p.Lys1732Gln | |
| ENST00000478531.5:c.1819A>C | ENSP00000420412.1:p.Lys607Gln | |
| ENST00000484087.5:c.1444A>C | ENSP00000419481.1:p.Lys482Gln | |
| ENST00000491747.6:c.1819A>C | ENSP00000420705.2:p.Lys607Gln | |
| ENST00000493795.5:c.4990A>C | ENSP00000418775.1:p.Lys1664Gln | |
| ENST00000493919.5:c.1681A>C | ENSP00000418819.1:p.Lys561Gln | |
| ENST00000586385.5:c.61A>C | ENSP00000465818.1:p.Lys21Gln | |
| ENST00000591534.5:c.604A>C | ENSP00000467329.1:p.Lys202Gln | |
| ENST00000591849.5:c.-98-13705A>C | ENSP00000465347.1:n.-98-13705A>C | |
| NM_007294.3:c.5131A>C , LRG_292t1:c.5131A>C | NP_009225.1:p.Lys1711Gln | |
| NM_007297.3:c.4990A>C | NP_009228.2:p.Lys1664Gln | |
| NM_007298.3:c.1819A>C | NP_009229.2:p.Lys607Gln | |
| NM_007299.3:c.1819A>C | NP_009230.2:p.Lys607Gln | |
| NM_007300.3:c.5194A>C | NP_009231.2:p.Lys1732Gln | |
| NR_027676.1:n.5267A>C | ||
| NM_007294.4:c.5131A>C MANE Select | NP_009225.1:p.Lys1711Gln | |
| NM_007297.4:c.4990A>C | NP_009228.2:p.Lys1664Gln | |
| NM_007299.4:c.1819A>C | NP_009230.2:p.Lys607Gln | |
| NM_007300.4:c.5194A>C | NP_009231.2:p.Lys1732Gln | |
| NR_027676.2:n.5308A>C |