Linked Data
ClinVar Variation Id:
550206
dbSNP Id:
rs776312173
ExAC:
1:76227045 A / G
gnomAD v2:
1-76227045-A-G
gnomAD v4:
1-75761360-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761360A>G , CM000663.2:g.75761360A>G | GRCh38 |
| NC_000001.10:g.76227045A>G , CM000663.1:g.76227045A>G | GRCh37 |
| NC_000001.9:g.75999633A>G | NCBI36 |
| NG_007045.2:g.42003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1184A>G MANE Select | ENSP00000359878.5:p.Lys395Arg | |
| ENST00000473018.3:n.3308A>G | ||
| ENST00000532207.6:n.2195A>G | ||
| ENST00000541113.6:c.1088A>G | ENSP00000442324.2:p.Lys363Arg | |
| ENST00000679509.1:n.2146A>G | ||
| ENST00000679530.1:c.*952A>G | ENSP00000506454.1:n.*952A>G | |
| ENST00000679615.1:n.3199A>G | ||
| ENST00000679687.1:c.746A>G | ENSP00000506598.1:p.Lys249Arg | |
| ENST00000679704.1:c.*950A>G | ENSP00000505117.1:n.*950A>G | |
| ENST00000679709.1:c.*1147A>G | ENSP00000506623.1:n.*1147A>G | |
| ENST00000679976.1:c.*768A>G | ENSP00000505565.1:n.*768A>G | |
| ENST00000680166.1:n.4473A>G | ||
| ENST00000680315.1:n.1067A>G | ||
| ENST00000680517.1:c.*572A>G | ENSP00000505803.1:n.*572A>G | |
| ENST00000680582.1:n.2146A>G | ||
| ENST00000680613.1:c.*677A>G | ENSP00000506114.1:n.*677A>G | |
| ENST00000680662.1:c.*1098A>G | ENSP00000505080.1:n.*1098A>G | |
| ENST00000680691.1:c.*847A>G | ENSP00000506487.1:n.*847A>G | |
| ENST00000680694.1:c.*772A>G | ENSP00000505658.1:n.*772A>G | |
| ENST00000680743.1:c.*973A>G | ENSP00000505073.1:n.*973A>G | |
| ENST00000680749.1:c.*469A>G | ENSP00000505122.1:n.*469A>G | |
| ENST00000680798.1:c.*659A>G | ENSP00000505670.1:n.*659A>G | |
| ENST00000680805.1:c.1043A>G | ENSP00000505447.1:p.Lys348Arg | |
| ENST00000680844.1:c.*968A>G | ENSP00000506541.1:n.*968A>G | |
| ENST00000680948.1:c.*1051A>G | ENSP00000505441.1:n.*1051A>G | |
| ENST00000680964.1:c.*277A>G | ENSP00000505961.1:n.*277A>G | |
| ENST00000681037.1:c.*2668A>G | ENSP00000506025.1:n.*2668A>G | |
| ENST00000681063.1:c.*453A>G | ENSP00000506616.1:n.*453A>G | |
| ENST00000681209.1:c.*839A>G | ENSP00000505877.1:n.*839A>G | |
| ENST00000681278.1:n.1886A>G | ||
| ENST00000681289.1:n.5179A>G | ||
| ENST00000681361.1:c.*851A>G | ENSP00000506679.1:n.*851A>G | |
| ENST00000681430.1:c.*277A>G | ENSP00000506301.1:n.*277A>G | |
| ENST00000681446.1:c.*888A>G | ENSP00000506244.1:n.*888A>G | |
| ENST00000681450.1:c.*855A>G | ENSP00000505660.1:n.*855A>G | |
| ENST00000681548.1:c.*770A>G | ENSP00000505275.1:n.*770A>G | |
| ENST00000681616.1:c.*843A>G | ENSP00000505111.1:n.*843A>G | |
| ENST00000681621.1:c.*768A>G | ENSP00000505770.1:n.*768A>G | |
| ENST00000681680.1:n.3279A>G | ||
| ENST00000681720.1:c.*639A>G | ENSP00000505438.1:n.*639A>G | |
| ENST00000681730.1:n.1406A>G | ||
| ENST00000681790.1:c.926A>G | ENSP00000505130.1:p.Lys309Arg | |
| ENST00000681837.1:n.1800A>G | ||
| ENST00000681913.1:n.3430A>G | ||
| ENST00000681916.1:c.*952A>G | ENSP00000506477.1:n.*952A>G | |
| ENST00000681930.1:n.3308A>G | ||
| ENST00000370834.9:c.1283A>G | ENSP00000359871.5:p.Lys428Arg | |
| ENST00000370841.8:c.1184A>G | ENSP00000359878.4:p.Lys395Arg | |
| ENST00000420607.6:c.1196A>G | ENSP00000409612.2:p.Lys399Arg | |
| ENST00000481374.1:n.457A>G | ||
| ENST00000525808.5:c.*770A>G | ENSP00000434823.1:n.*770A>G | |
| ENST00000526129.5:c.*968A>G | ENSP00000434092.1:n.*968A>G | |
| ENST00000526196.5:c.*952A>G | ENSP00000431953.1:n.*952A>G | |
| ENST00000528016.1:c.160-7817A>G | ENSP00000434284.1:n.160-7817A>G | |
| ENST00000529059.5:n.1093A>G | ||
| ENST00000541113.5:c.1076A>G | ENSP00000442324.1:p.Lys359Arg | |
| NM_000016.5:c.1184A>G | NP_000007.1:p.Lys395Arg | |
| NM_001127328.2:c.1196A>G | NP_001120800.1:p.Lys399Arg | |
| NM_001286042.1:c.1076A>G | NP_001272971.1:p.Lys359Arg | |
| NM_001286043.1:c.1283A>G | NP_001272972.1:p.Lys428Arg | |
| NM_001286044.1:c.617A>G | NP_001272973.1:p.Lys206Arg | |
| NM_000016.6:c.1184A>G MANE Select | NP_000007.1:p.Lys395Arg | |
| NM_001127328.3:c.1196A>G | NP_001120800.1:p.Lys399Arg | |
| NM_001286042.2:c.1076A>G | NP_001272971.1:p.Lys359Arg | |
| NM_001286043.2:c.1283A>G | NP_001272972.1:p.Lys428Arg | |
| NM_001286044.2:c.617A>G | NP_001272973.1:p.Lys206Arg |