Linked Data
ClinVar Variation Id:
2725907
ClinVar RCV Id:
RCV003504253
dbSNP Id:
rs1205844600
gnomAD v2:
1-76226878-A-G
gnomAD v4:
1-75761193-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761193A>G , CM000663.2:g.75761193A>G | GRCh38 |
| NC_000001.10:g.76226878A>G , CM000663.1:g.76226878A>G | GRCh37 |
| NC_000001.9:g.75999466A>G | NCBI36 |
| NG_007045.2:g.41836A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1017A>G MANE Select | ENSP00000359878.5:p.Arg339= | |
| ENST00000473018.3:n.3141A>G | ||
| ENST00000532207.6:n.2028A>G | ||
| ENST00000541113.6:c.921A>G | ENSP00000442324.2:p.Arg307= | |
| ENST00000679509.1:n.1979A>G | ||
| ENST00000679530.1:c.*785A>G | ENSP00000506454.1:n.*785A>G | |
| ENST00000679615.1:n.3032A>G | ||
| ENST00000679687.1:c.579A>G | ENSP00000506598.1:p.Arg193= | |
| ENST00000679704.1:c.*783A>G | ENSP00000505117.1:n.*783A>G | |
| ENST00000679709.1:c.*980A>G | ENSP00000506623.1:n.*980A>G | |
| ENST00000679976.1:c.*601A>G | ENSP00000505565.1:n.*601A>G | |
| ENST00000680166.1:n.4306A>G | ||
| ENST00000680315.1:n.900A>G | ||
| ENST00000680517.1:c.*405A>G | ENSP00000505803.1:n.*405A>G | |
| ENST00000680582.1:n.1979A>G | ||
| ENST00000680613.1:c.*510A>G | ENSP00000506114.1:n.*510A>G | |
| ENST00000680662.1:c.*931A>G | ENSP00000505080.1:n.*931A>G | |
| ENST00000680691.1:c.*680A>G | ENSP00000506487.1:n.*680A>G | |
| ENST00000680694.1:c.*605A>G | ENSP00000505658.1:n.*605A>G | |
| ENST00000680743.1:c.*806A>G | ENSP00000505073.1:n.*806A>G | |
| ENST00000680749.1:c.*302A>G | ENSP00000505122.1:n.*302A>G | |
| ENST00000680798.1:c.*492A>G | ENSP00000505670.1:n.*492A>G | |
| ENST00000680805.1:c.876A>G | ENSP00000505447.1:p.Arg292= | |
| ENST00000680844.1:c.*801A>G | ENSP00000506541.1:n.*801A>G | |
| ENST00000680948.1:c.*884A>G | ENSP00000505441.1:n.*884A>G | |
| ENST00000680964.1:c.*110A>G | ENSP00000505961.1:n.*110A>G | |
| ENST00000681037.1:c.*2501A>G | ENSP00000506025.1:n.*2501A>G | |
| ENST00000681063.1:c.*286A>G | ENSP00000506616.1:n.*286A>G | |
| ENST00000681209.1:c.*672A>G | ENSP00000505877.1:n.*672A>G | |
| ENST00000681278.1:n.1719A>G | ||
| ENST00000681289.1:n.5012A>G | ||
| ENST00000681361.1:c.*684A>G | ENSP00000506679.1:n.*684A>G | |
| ENST00000681430.1:c.*110A>G | ENSP00000506301.1:n.*110A>G | |
| ENST00000681446.1:c.*721A>G | ENSP00000506244.1:n.*721A>G | |
| ENST00000681450.1:c.*688A>G | ENSP00000505660.1:n.*688A>G | |
| ENST00000681548.1:c.*603A>G | ENSP00000505275.1:n.*603A>G | |
| ENST00000681616.1:c.*676A>G | ENSP00000505111.1:n.*676A>G | |
| ENST00000681621.1:c.*601A>G | ENSP00000505770.1:n.*601A>G | |
| ENST00000681680.1:n.3112A>G | ||
| ENST00000681720.1:c.*472A>G | ENSP00000505438.1:n.*472A>G | |
| ENST00000681730.1:n.1239A>G | ||
| ENST00000681790.1:c.759A>G | ENSP00000505130.1:p.Arg253= | |
| ENST00000681837.1:n.1633A>G | ||
| ENST00000681913.1:n.3263A>G | ||
| ENST00000681916.1:c.*785A>G | ENSP00000506477.1:n.*785A>G | |
| ENST00000681930.1:n.3141A>G | ||
| ENST00000370834.9:c.1116A>G | ENSP00000359871.5:p.Arg372= | |
| ENST00000370841.8:c.1017A>G | ENSP00000359878.4:p.Arg339= | |
| ENST00000420607.6:c.1029A>G | ENSP00000409612.2:p.Arg343= | |
| ENST00000481374.1:n.290A>G | ||
| ENST00000525808.5:c.*603A>G | ENSP00000434823.1:n.*603A>G | |
| ENST00000526129.5:c.*801A>G | ENSP00000434092.1:n.*801A>G | |
| ENST00000526196.5:c.*785A>G | ENSP00000431953.1:n.*785A>G | |
| ENST00000528016.1:c.160-7984A>G | ENSP00000434284.1:n.160-7984A>G | |
| ENST00000529059.5:n.926A>G | ||
| ENST00000532207.5:n.747A>G | ||
| ENST00000534334.5:c.*758A>G | ENSP00000435584.1:n.*758A>G | |
| ENST00000541113.5:c.909A>G | ENSP00000442324.1:p.Arg303= | |
| NM_000016.5:c.1017A>G | NP_000007.1:p.Arg339= | |
| NM_001127328.2:c.1029A>G | NP_001120800.1:p.Arg343= | |
| NM_001286042.1:c.909A>G | NP_001272971.1:p.Arg303= | |
| NM_001286043.1:c.1116A>G | NP_001272972.1:p.Arg372= | |
| NM_001286044.1:c.450A>G | NP_001272973.1:p.Arg150= | |
| NM_000016.6:c.1017A>G MANE Select | NP_000007.1:p.Arg339= | |
| NM_001127328.3:c.1029A>G | NP_001120800.1:p.Arg343= | |
| NM_001286042.2:c.909A>G | NP_001272971.1:p.Arg303= | |
| NM_001286043.2:c.1116A>G | NP_001272972.1:p.Arg372= | |
| NM_001286044.2:c.450A>G | NP_001272973.1:p.Arg150= |