Linked Data
ClinVar Variation Id:
186289
ClinVar RCV Id:
RCV000165855
RCV000412171
RCV000586029
RCV001081334
RCV003321533
RCV001798594
RCV004554737
dbSNP Id:
rs754152768
ExAC:
17:41201210 A / G
gnomAD v2:
17-41201210-A-G
gnomAD v3:
17-43049193-A-G
gnomAD v4:
17-43049193-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049193A>G , CM000679.2:g.43049193A>G | GRCh38 |
| NC_000017.10:g.41201210A>G , CM000679.1:g.41201210A>G | GRCh37 |
| NC_000017.9:g.38454736A>G | NCBI36 |
| NG_005905.2:g.168791T>C , LRG_292:g.168791T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5331T>C | ENSP00000417241.2:p.Asp1777= | |
| ENST00000470026.6:c.5334T>C | ENSP00000419274.2:p.Asp1778= | |
| ENST00000473961.6:c.5208T>C | ENSP00000420201.2:p.Asp1736= | |
| ENST00000476777.6:c.5328T>C | ENSP00000417554.2:p.Asp1776= | |
| ENST00000477152.6:c.5256T>C | ENSP00000419988.2:p.Asp1752= | |
| ENST00000478531.6:c.2022T>C | ENSP00000420412.2:p.Asp674= | |
| ENST00000489037.2:c.5256T>C | ENSP00000420781.2:p.Asp1752= | |
| ENST00000493919.6:c.1884T>C | ENSP00000418819.2:p.Asp628= | |
| ENST00000494123.6:c.5334T>C | ENSP00000419103.2:p.Asp1778= | |
| ENST00000497488.2:c.4446T>C | ENSP00000418986.2:p.Asp1482= | |
| ENST00000618469.2:c.5334T>C | ENSP00000478114.2:p.Asp1778= | |
| ENST00000634433.2:c.5211T>C | ENSP00000489431.2:p.Asp1737= | |
| ENST00000644379.2:c.5400T>C | ENSP00000496570.2:p.Asp1800= | |
| ENST00000644555.2:c.1884T>C | ENSP00000494614.2:p.Asp628= | |
| ENST00000652672.2:c.5193T>C | ENSP00000498906.2:p.Asp1731= | |
| ENST00000484087.6:c.1896T>C | ENSP00000419481.2:p.Asp632= | |
| ENST00000700081.1:n.1217T>C | ||
| ENST00000357654.9:c.5334T>C MANE Select | ENSP00000350283.3:p.Asp1778= | |
| ENST00000471181.7:c.5397T>C | ENSP00000418960.2:p.Asp1799= | |
| ENST00000644379.1:c.1721T>C | ||
| ENST00000352993.7:c.1908T>C | ENSP00000312236.5:p.Asp636= | |
| ENST00000357654.7:c.5334T>C | ENSP00000350283.3:p.Asp1778= | |
| ENST00000461221.5:c.*5117T>C | ENSP00000418548.1:n.*5117T>C | |
| ENST00000468300.5:c.2021-1490T>C | ENSP00000417148.1:n.2021-1490T>C | |
| ENST00000471181.6:c.5397T>C | ENSP00000418960.2:p.Asp1799= | |
| ENST00000491747.6:c.2022T>C | ENSP00000420705.2:p.Asp674= | |
| ENST00000493795.5:c.5193T>C | ENSP00000418775.1:p.Asp1731= | |
| ENST00000586385.5:c.264T>C | ENSP00000465818.1:p.Asp88= | |
| ENST00000591534.5:c.807T>C | ENSP00000467329.1:p.Asp269= | |
| ENST00000591849.5:c.33T>C | ENSP00000465347.1:p.Tyr11= | |
| NM_007294.3:c.5334T>C , LRG_292t1:c.5334T>C | NP_009225.1:p.Asp1778= | |
| NM_007297.3:c.5193T>C | NP_009228.2:p.Asp1731= | |
| NM_007298.3:c.2022T>C | NP_009229.2:p.Asp674= | |
| NM_007299.3:c.2021-1490T>C | NP_009230.2:n.2021-1490T>C | |
| NM_007300.3:c.5397T>C | NP_009231.2:p.Asp1799= | |
| NR_027676.1:n.5470T>C | ||
| NM_007294.4:c.5334T>C MANE Select | NP_009225.1:p.Asp1778= | |
| NM_007297.4:c.5193T>C | NP_009228.2:p.Asp1731= | |
| NM_007299.4:c.2021-1490T>C | NP_009230.2:n.2021-1490T>C | |
| NM_007300.4:c.5397T>C | NP_009231.2:p.Asp1799= | |
| NR_027676.2:n.5511T>C |