Linked Data
ClinVar Variation Id:
3594
dbSNP Id:
rs121434278
ExAC:
1:76205779 G / A
gnomAD v2:
1-76205779-G-A
gnomAD v3:
1-75740094-G-A
gnomAD v4:
1-75740094-G-A
COSMIC:
COSM73546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740094G>A , CM000663.2:g.75740094G>A | GRCh38 |
| NC_000001.10:g.76205779G>A , CM000663.1:g.76205779G>A | GRCh37 |
| NC_000001.9:g.75978367G>A | NCBI36 |
| NG_007045.2:g.20737G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.583G>A MANE Select | ENSP00000359878.5:p.Gly195Arg | |
| ENST00000473018.3:n.2707G>A | ||
| ENST00000541113.6:c.583G>A | ENSP00000442324.2:p.Gly195Arg | |
| ENST00000679509.1:n.1545G>A | ||
| ENST00000679530.1:c.*351G>A | ENSP00000506454.1:n.*351G>A | |
| ENST00000679615.1:n.2707G>A | ||
| ENST00000679687.1:c.145G>A | ENSP00000506598.1:p.Gly49Arg | |
| ENST00000679704.1:c.*349G>A | ENSP00000505117.1:n.*349G>A | |
| ENST00000679709.1:c.*546G>A | ENSP00000506623.1:n.*546G>A | |
| ENST00000679804.1:n.322G>A | ||
| ENST00000679976.1:c.*167G>A | ENSP00000505565.1:n.*167G>A | |
| ENST00000680166.1:n.3872G>A | ||
| ENST00000680517.1:c.*80G>A | ENSP00000505803.1:n.*80G>A | |
| ENST00000680582.1:n.1545G>A | ||
| ENST00000680613.1:c.583G>A | ENSP00000506114.1:p.Gly195Arg | |
| ENST00000680662.1:c.*497G>A | ENSP00000505080.1:n.*497G>A | |
| ENST00000680691.1:c.*246G>A | ENSP00000506487.1:n.*246G>A | |
| ENST00000680694.1:c.*171G>A | ENSP00000505658.1:n.*171G>A | |
| ENST00000680743.1:c.*250G>A | ENSP00000505073.1:n.*250G>A | |
| ENST00000680749.1:c.583G>A | ENSP00000505122.1:p.Gly195Arg | |
| ENST00000680798.1:c.*167G>A | ENSP00000505670.1:n.*167G>A | |
| ENST00000680805.1:c.583G>A | ENSP00000505447.1:p.Gly195Arg | |
| ENST00000680844.1:c.*367G>A | ENSP00000506541.1:n.*367G>A | |
| ENST00000680948.1:c.*450G>A | ENSP00000505441.1:n.*450G>A | |
| ENST00000680964.1:c.583G>A | ENSP00000505961.1:p.Gly195Arg | |
| ENST00000681037.1:c.583G>A | ENSP00000506025.1:p.Gly195Arg | |
| ENST00000681063.1:c.583G>A | ENSP00000506616.1:p.Gly195Arg | |
| ENST00000681209.1:c.*347G>A | ENSP00000505877.1:n.*347G>A | |
| ENST00000681278.1:n.940G>A | ||
| ENST00000681289.1:n.940G>A | ||
| ENST00000681361.1:c.*250G>A | ENSP00000506679.1:n.*250G>A | |
| ENST00000681430.1:c.583G>A | ENSP00000506301.1:p.Gly195Arg | |
| ENST00000681446.1:c.*165G>A | ENSP00000506244.1:n.*165G>A | |
| ENST00000681450.1:c.*254G>A | ENSP00000505660.1:n.*254G>A | |
| ENST00000681548.1:c.*169G>A | ENSP00000505275.1:n.*169G>A | |
| ENST00000681616.1:c.*351G>A | ENSP00000505111.1:n.*351G>A | |
| ENST00000681621.1:c.*167G>A | ENSP00000505770.1:n.*167G>A | |
| ENST00000681680.1:n.2707G>A | ||
| ENST00000681720.1:c.*55-5712G>A | ENSP00000505438.1:n.*55-5712G>A | |
| ENST00000681730.1:n.805G>A | ||
| ENST00000681790.1:c.325G>A | ENSP00000505130.1:p.Gly109Arg | |
| ENST00000681837.1:n.1199G>A | ||
| ENST00000681913.1:n.2707G>A | ||
| ENST00000681916.1:c.*351G>A | ENSP00000506477.1:n.*351G>A | |
| ENST00000681930.1:n.2707G>A | ||
| ENST00000370834.9:c.682G>A | ENSP00000359871.5:p.Gly228Arg | |
| ENST00000370841.8:c.583G>A | ENSP00000359878.4:p.Gly195Arg | |
| ENST00000420607.6:c.595G>A | ENSP00000409612.2:p.Gly199Arg | |
| ENST00000525808.5:c.*169G>A | ENSP00000434823.1:n.*169G>A | |
| ENST00000526129.5:c.*367G>A | ENSP00000434092.1:n.*367G>A | |
| ENST00000526196.5:c.*351G>A | ENSP00000431953.1:n.*351G>A | |
| ENST00000526930.1:n.356G>A | ||
| ENST00000529059.5:n.492G>A | ||
| ENST00000530953.6:c.*80G>A | ENSP00000431372.1:n.*80G>A | |
| ENST00000532509.5:c.*347G>A | ENSP00000432522.1:n.*347G>A | |
| ENST00000534334.5:c.*167G>A | ENSP00000435584.1:n.*167G>A | |
| ENST00000541113.5:c.475G>A | ENSP00000442324.1:p.Gly159Arg | |
| NM_000016.5:c.583G>A | NP_000007.1:p.Gly195Arg | |
| NM_001127328.2:c.595G>A | NP_001120800.1:p.Gly199Arg | |
| NM_001286042.1:c.475G>A | NP_001272971.1:p.Gly159Arg | |
| NM_001286043.1:c.682G>A | NP_001272972.1:p.Gly228Arg | |
| NM_001286044.1:c.16G>A | NP_001272973.1:p.Gly6Arg | |
| NM_000016.6:c.583G>A MANE Select | NP_000007.1:p.Gly195Arg | |
| NM_001127328.3:c.595G>A | NP_001120800.1:p.Gly199Arg | |
| NM_001286042.2:c.475G>A | NP_001272971.1:p.Gly159Arg | |
| NM_001286043.2:c.682G>A | NP_001272972.1:p.Gly228Arg | |
| NM_001286044.2:c.16G>A | NP_001272973.1:p.Gly6Arg |