Linked Data
ClinVar Variation Id:
226054
ClinVar RCV Id:
RCV000211500
dbSNP Id:
rs768884003
ExAC:
1:76215152 G / A
gnomAD v2:
1-76215152-G-A
gnomAD v3:
1-75749467-G-A
gnomAD v4:
1-75749467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749467G>A , CM000663.2:g.75749467G>A | GRCh38 |
| NC_000001.10:g.76215152G>A , CM000663.1:g.76215152G>A | GRCh37 |
| NC_000001.9:g.75987740G>A | NCBI36 |
| NG_007045.2:g.30110G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.757G>A MANE Select | ENSP00000359878.5:p.Glu253Lys | |
| ENST00000473018.3:n.2881G>A | ||
| ENST00000532207.6:n.1646G>A | ||
| ENST00000541113.6:c.757G>A | ENSP00000442324.2:p.Glu253Lys | |
| ENST00000679509.1:n.1719G>A | ||
| ENST00000679530.1:c.*525G>A | ENSP00000506454.1:n.*525G>A | |
| ENST00000679615.1:n.2772G>A | ||
| ENST00000679687.1:c.319G>A | ENSP00000506598.1:p.Glu107Lys | |
| ENST00000679704.1:c.*523G>A | ENSP00000505117.1:n.*523G>A | |
| ENST00000679709.1:c.*720G>A | ENSP00000506623.1:n.*720G>A | |
| ENST00000679976.1:c.*341G>A | ENSP00000505565.1:n.*341G>A | |
| ENST00000680166.1:n.4046G>A | ||
| ENST00000680517.1:c.*145G>A | ENSP00000505803.1:n.*145G>A | |
| ENST00000680582.1:n.1719G>A | ||
| ENST00000680613.1:c.*128G>A | ENSP00000506114.1:n.*128G>A | |
| ENST00000680662.1:c.*671G>A | ENSP00000505080.1:n.*671G>A | |
| ENST00000680691.1:c.*420G>A | ENSP00000506487.1:n.*420G>A | |
| ENST00000680694.1:c.*345G>A | ENSP00000505658.1:n.*345G>A | |
| ENST00000680743.1:c.*424G>A | ENSP00000505073.1:n.*424G>A | |
| ENST00000680749.1:c.*42G>A | ENSP00000505122.1:n.*42G>A | |
| ENST00000680798.1:c.*232G>A | ENSP00000505670.1:n.*232G>A | |
| ENST00000680805.1:c.709-984G>A | ENSP00000505447.1:n.709-984G>A | |
| ENST00000680844.1:c.*541G>A | ENSP00000506541.1:n.*541G>A | |
| ENST00000680948.1:c.*624G>A | ENSP00000505441.1:n.*624G>A | |
| ENST00000680964.1:c.757G>A | ENSP00000505961.1:p.Glu253Lys | |
| ENST00000681037.1:c.*2241G>A | ENSP00000506025.1:n.*2241G>A | |
| ENST00000681063.1:c.600-984G>A | ENSP00000506616.1:n.600-984G>A | |
| ENST00000681209.1:c.*412G>A | ENSP00000505877.1:n.*412G>A | |
| ENST00000681278.1:n.1114G>A | ||
| ENST00000681289.1:n.4752G>A | ||
| ENST00000681361.1:c.*424G>A | ENSP00000506679.1:n.*424G>A | |
| ENST00000681430.1:c.757G>A | ENSP00000506301.1:p.Glu253Lys | |
| ENST00000681446.1:c.*339G>A | ENSP00000506244.1:n.*339G>A | |
| ENST00000681450.1:c.*428G>A | ENSP00000505660.1:n.*428G>A | |
| ENST00000681548.1:c.*343G>A | ENSP00000505275.1:n.*343G>A | |
| ENST00000681616.1:c.*416G>A | ENSP00000505111.1:n.*416G>A | |
| ENST00000681621.1:c.*341G>A | ENSP00000505770.1:n.*341G>A | |
| ENST00000681680.1:n.2852G>A | ||
| ENST00000681720.1:c.*212G>A | ENSP00000505438.1:n.*212G>A | |
| ENST00000681730.1:n.979G>A | ||
| ENST00000681790.1:c.499G>A | ENSP00000505130.1:p.Glu167Lys | |
| ENST00000681837.1:n.1373G>A | ||
| ENST00000681913.1:n.2881G>A | ||
| ENST00000681916.1:c.*525G>A | ENSP00000506477.1:n.*525G>A | |
| ENST00000681930.1:n.2881G>A | ||
| ENST00000370834.9:c.856G>A | ENSP00000359871.5:p.Glu286Lys | |
| ENST00000370841.8:c.757G>A | ENSP00000359878.4:p.Glu253Lys | |
| ENST00000420607.6:c.769G>A | ENSP00000409612.2:p.Glu257Lys | |
| ENST00000525808.5:c.*343G>A | ENSP00000434823.1:n.*343G>A | |
| ENST00000526129.5:c.*541G>A | ENSP00000434092.1:n.*541G>A | |
| ENST00000526196.5:c.*525G>A | ENSP00000431953.1:n.*525G>A | |
| ENST00000526930.1:n.530G>A | ||
| ENST00000529059.5:n.666G>A | ||
| ENST00000530953.6:c.*254G>A | ENSP00000431372.1:n.*254G>A | |
| ENST00000532207.5:n.487G>A | ||
| ENST00000532509.5:c.*521G>A | ENSP00000432522.1:n.*521G>A | |
| ENST00000534334.5:c.*341G>A | ENSP00000435584.1:n.*341G>A | |
| ENST00000541113.5:c.649G>A | ENSP00000442324.1:p.Glu217Lys | |
| NM_000016.5:c.757G>A | NP_000007.1:p.Glu253Lys | |
| NM_001127328.2:c.769G>A | NP_001120800.1:p.Glu257Lys | |
| NM_001286042.1:c.649G>A | NP_001272971.1:p.Glu217Lys | |
| NM_001286043.1:c.856G>A | NP_001272972.1:p.Glu286Lys | |
| NM_001286044.1:c.190G>A | NP_001272973.1:p.Glu64Lys | |
| NM_000016.6:c.757G>A MANE Select | NP_000007.1:p.Glu253Lys | |
| NM_001127328.3:c.769G>A | NP_001120800.1:p.Glu257Lys | |
| NM_001286042.2:c.649G>A | NP_001272971.1:p.Glu217Lys | |
| NM_001286043.2:c.856G>A | NP_001272972.1:p.Glu286Lys | |
| NM_001286044.2:c.190G>A | NP_001272973.1:p.Glu64Lys |