Linked Data
ClinVar Variation Id:
55539
ClinVar RCV Id:
RCV000048945
RCV000077617
RCV000129616
RCV000589573
RCV001353416
RCV001081585
RCV004554689
dbSNP Id:
rs80357041
ExAC:
17:41201211 T / C
gnomAD v2:
17-41201211-T-C
gnomAD v3:
17-43049194-T-C
gnomAD v4:
17-43049194-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049194T>C , CM000679.2:g.43049194T>C | GRCh38 |
| NC_000017.10:g.41201211T>C , CM000679.1:g.41201211T>C | GRCh37 |
| NC_000017.9:g.38454737T>C | NCBI36 |
| NG_005905.2:g.168790A>G , LRG_292:g.168790A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5330A>G | ENSP00000417241.2:p.Asp1777Gly | |
| ENST00000470026.6:c.5333A>G | ENSP00000419274.2:p.Asp1778Gly | |
| ENST00000473961.6:c.5207A>G | ENSP00000420201.2:p.Asp1736Gly | |
| ENST00000476777.6:c.5327A>G | ENSP00000417554.2:p.Asp1776Gly | |
| ENST00000477152.6:c.5255A>G | ENSP00000419988.2:p.Asp1752Gly | |
| ENST00000478531.6:c.2021A>G | ENSP00000420412.2:p.Asp674Gly | |
| ENST00000489037.2:c.5255A>G | ENSP00000420781.2:p.Asp1752Gly | |
| ENST00000493919.6:c.1883A>G | ENSP00000418819.2:p.Asp628Gly | |
| ENST00000494123.6:c.5333A>G | ENSP00000419103.2:p.Asp1778Gly | |
| ENST00000497488.2:c.4445A>G | ENSP00000418986.2:p.Asp1482Gly | |
| ENST00000618469.2:c.5333A>G | ENSP00000478114.2:p.Asp1778Gly | |
| ENST00000634433.2:c.5210A>G | ENSP00000489431.2:p.Asp1737Gly | |
| ENST00000644379.2:c.5399A>G | ENSP00000496570.2:p.Asp1800Gly | |
| ENST00000644555.2:c.1883A>G | ENSP00000494614.2:p.Asp628Gly | |
| ENST00000652672.2:c.5192A>G | ENSP00000498906.2:p.Asp1731Gly | |
| ENST00000484087.6:c.1895A>G | ENSP00000419481.2:p.Asp632Gly | |
| ENST00000700081.1:n.1216A>G | ||
| ENST00000357654.9:c.5333A>G MANE Select | ENSP00000350283.3:p.Asp1778Gly | |
| ENST00000471181.7:c.5396A>G | ENSP00000418960.2:p.Asp1799Gly | |
| ENST00000644379.1:c.1720A>G | ||
| ENST00000352993.7:c.1907A>G | ENSP00000312236.5:p.Asp636Gly | |
| ENST00000357654.7:c.5333A>G | ENSP00000350283.3:p.Asp1778Gly | |
| ENST00000461221.5:c.*5116A>G | ENSP00000418548.1:n.*5116A>G | |
| ENST00000468300.5:c.2021-1491A>G | ENSP00000417148.1:n.2021-1491A>G | |
| ENST00000471181.6:c.5396A>G | ENSP00000418960.2:p.Asp1799Gly | |
| ENST00000491747.6:c.2021A>G | ENSP00000420705.2:p.Asp674Gly | |
| ENST00000493795.5:c.5192A>G | ENSP00000418775.1:p.Asp1731Gly | |
| ENST00000586385.5:c.263A>G | ENSP00000465818.1:p.Asp88Gly | |
| ENST00000591534.5:c.806A>G | ENSP00000467329.1:p.Asp269Gly | |
| ENST00000591849.5:c.32A>G | ENSP00000465347.1:p.Tyr11Cys | |
| NM_007294.3:c.5333A>G , LRG_292t1:c.5333A>G | NP_009225.1:p.Asp1778Gly | |
| NM_007297.3:c.5192A>G | NP_009228.2:p.Asp1731Gly | |
| NM_007298.3:c.2021A>G | NP_009229.2:p.Asp674Gly | |
| NM_007299.3:c.2021-1491A>G | NP_009230.2:n.2021-1491A>G | |
| NM_007300.3:c.5396A>G | NP_009231.2:p.Asp1799Gly | |
| NR_027676.1:n.5469A>G | ||
| NM_007294.4:c.5333A>G MANE Select | NP_009225.1:p.Asp1778Gly | |
| NM_007297.4:c.5192A>G | NP_009228.2:p.Asp1731Gly | |
| NM_007299.4:c.2021-1491A>G | NP_009230.2:n.2021-1491A>G | |
| NM_007300.4:c.5396A>G | NP_009231.2:p.Asp1799Gly | |
| NR_027676.2:n.5510A>G |