Linked Data
ClinVar Variation Id:
3588
dbSNP Id:
rs121434274
ExAC:
1:76215194 G / A
gnomAD v2:
1-76215194-G-A
gnomAD v3:
1-75749509-G-A
gnomAD v4:
1-75749509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749509G>A , CM000663.2:g.75749509G>A | GRCh38 |
| NC_000001.10:g.76215194G>A , CM000663.1:g.76215194G>A | GRCh37 |
| NC_000001.9:g.75987782G>A | NCBI36 |
| NG_007045.2:g.30152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.799G>A MANE Select | ENSP00000359878.5:p.Gly267Arg | |
| ENST00000473018.3:n.2923G>A | ||
| ENST00000532207.6:n.1688G>A | ||
| ENST00000541113.6:c.799G>A | ENSP00000442324.2:p.Gly267Arg | |
| ENST00000679509.1:n.1761G>A | ||
| ENST00000679530.1:c.*567G>A | ENSP00000506454.1:n.*567G>A | |
| ENST00000679615.1:n.2814G>A | ||
| ENST00000679687.1:c.361G>A | ENSP00000506598.1:p.Gly121Arg | |
| ENST00000679704.1:c.*565G>A | ENSP00000505117.1:n.*565G>A | |
| ENST00000679709.1:c.*762G>A | ENSP00000506623.1:n.*762G>A | |
| ENST00000679976.1:c.*383G>A | ENSP00000505565.1:n.*383G>A | |
| ENST00000680166.1:n.4088G>A | ||
| ENST00000680517.1:c.*187G>A | ENSP00000505803.1:n.*187G>A | |
| ENST00000680582.1:n.1761G>A | ||
| ENST00000680613.1:c.*170G>A | ENSP00000506114.1:n.*170G>A | |
| ENST00000680662.1:c.*713G>A | ENSP00000505080.1:n.*713G>A | |
| ENST00000680691.1:c.*462G>A | ENSP00000506487.1:n.*462G>A | |
| ENST00000680694.1:c.*387G>A | ENSP00000505658.1:n.*387G>A | |
| ENST00000680743.1:c.*466G>A | ENSP00000505073.1:n.*466G>A | |
| ENST00000680749.1:c.*84G>A | ENSP00000505122.1:n.*84G>A | |
| ENST00000680798.1:c.*274G>A | ENSP00000505670.1:n.*274G>A | |
| ENST00000680805.1:c.709-942G>A | ENSP00000505447.1:n.709-942G>A | |
| ENST00000680844.1:c.*583G>A | ENSP00000506541.1:n.*583G>A | |
| ENST00000680948.1:c.*666G>A | ENSP00000505441.1:n.*666G>A | |
| ENST00000680964.1:c.799G>A | ENSP00000505961.1:p.Gly267Arg | |
| ENST00000681037.1:c.*2283G>A | ENSP00000506025.1:n.*2283G>A | |
| ENST00000681063.1:c.600-942G>A | ENSP00000506616.1:n.600-942G>A | |
| ENST00000681209.1:c.*454G>A | ENSP00000505877.1:n.*454G>A | |
| ENST00000681278.1:n.1156G>A | ||
| ENST00000681289.1:n.4794G>A | ||
| ENST00000681361.1:c.*466G>A | ENSP00000506679.1:n.*466G>A | |
| ENST00000681430.1:c.799G>A | ENSP00000506301.1:p.Gly267Arg | |
| ENST00000681446.1:c.*381G>A | ENSP00000506244.1:n.*381G>A | |
| ENST00000681450.1:c.*470G>A | ENSP00000505660.1:n.*470G>A | |
| ENST00000681548.1:c.*385G>A | ENSP00000505275.1:n.*385G>A | |
| ENST00000681616.1:c.*458G>A | ENSP00000505111.1:n.*458G>A | |
| ENST00000681621.1:c.*383G>A | ENSP00000505770.1:n.*383G>A | |
| ENST00000681680.1:n.2894G>A | ||
| ENST00000681720.1:c.*254G>A | ENSP00000505438.1:n.*254G>A | |
| ENST00000681730.1:n.1021G>A | ||
| ENST00000681790.1:c.541G>A | ENSP00000505130.1:p.Gly181Arg | |
| ENST00000681837.1:n.1415G>A | ||
| ENST00000681913.1:n.2923G>A | ||
| ENST00000681916.1:c.*567G>A | ENSP00000506477.1:n.*567G>A | |
| ENST00000681930.1:n.2923G>A | ||
| ENST00000370834.9:c.898G>A | ENSP00000359871.5:p.Gly300Arg | |
| ENST00000370841.8:c.799G>A | ENSP00000359878.4:p.Gly267Arg | |
| ENST00000420607.6:c.811G>A | ENSP00000409612.2:p.Gly271Arg | |
| ENST00000525808.5:c.*385G>A | ENSP00000434823.1:n.*385G>A | |
| ENST00000526129.5:c.*583G>A | ENSP00000434092.1:n.*583G>A | |
| ENST00000526196.5:c.*567G>A | ENSP00000431953.1:n.*567G>A | |
| ENST00000526930.1:n.572G>A | ||
| ENST00000528016.1:c.13G>A | ENSP00000434284.1:p.Gly5Arg | |
| ENST00000529059.5:n.708G>A | ||
| ENST00000530953.6:c.*296G>A | ENSP00000431372.1:n.*296G>A | |
| ENST00000532207.5:n.529G>A | ||
| ENST00000532509.5:c.*563G>A | ENSP00000432522.1:n.*563G>A | |
| ENST00000534334.5:c.*383G>A | ENSP00000435584.1:n.*383G>A | |
| ENST00000541113.5:c.691G>A | ENSP00000442324.1:p.Gly231Arg | |
| NM_000016.5:c.799G>A | NP_000007.1:p.Gly267Arg | |
| NM_001127328.2:c.811G>A | NP_001120800.1:p.Gly271Arg | |
| NM_001286042.1:c.691G>A | NP_001272971.1:p.Gly231Arg | |
| NM_001286043.1:c.898G>A | NP_001272972.1:p.Gly300Arg | |
| NM_001286044.1:c.232G>A | NP_001272973.1:p.Gly78Arg | |
| NM_000016.6:c.799G>A MANE Select | NP_000007.1:p.Gly267Arg | |
| NM_001127328.3:c.811G>A | NP_001120800.1:p.Gly271Arg | |
| NM_001286042.2:c.691G>A | NP_001272971.1:p.Gly231Arg | |
| NM_001286043.2:c.898G>A | NP_001272972.1:p.Gly300Arg | |
| NM_001286044.2:c.232G>A | NP_001272973.1:p.Gly78Arg |