Linked Data
dbSNP Id:
rs759115000
ExAC:
1:76226931 C / A
gnomAD v2:
1-76226931-C-A
gnomAD v4:
1-75761246-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761246C>A , CM000663.2:g.75761246C>A | GRCh38 |
| NC_000001.10:g.76226931C>A , CM000663.1:g.76226931C>A | GRCh37 |
| NC_000001.9:g.75999519C>A | NCBI36 |
| NG_007045.2:g.41889C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.1070C>A MANE Select | ENSP00000359878.5:p.Ala357Glu | |
| ENST00000473018.3:n.3194C>A | ||
| ENST00000532207.6:n.2081C>A | ||
| ENST00000541113.6:c.974C>A | ENSP00000442324.2:p.Ala325Glu | |
| ENST00000679509.1:n.2032C>A | ||
| ENST00000679530.1:c.*838C>A | ENSP00000506454.1:n.*838C>A | |
| ENST00000679615.1:n.3085C>A | ||
| ENST00000679687.1:c.632C>A | ENSP00000506598.1:p.Ala211Glu | |
| ENST00000679704.1:c.*836C>A | ENSP00000505117.1:n.*836C>A | |
| ENST00000679709.1:c.*1033C>A | ENSP00000506623.1:n.*1033C>A | |
| ENST00000679976.1:c.*654C>A | ENSP00000505565.1:n.*654C>A | |
| ENST00000680166.1:n.4359C>A | ||
| ENST00000680315.1:n.953C>A | ||
| ENST00000680517.1:c.*458C>A | ENSP00000505803.1:n.*458C>A | |
| ENST00000680582.1:n.2032C>A | ||
| ENST00000680613.1:c.*563C>A | ENSP00000506114.1:n.*563C>A | |
| ENST00000680662.1:c.*984C>A | ENSP00000505080.1:n.*984C>A | |
| ENST00000680691.1:c.*733C>A | ENSP00000506487.1:n.*733C>A | |
| ENST00000680694.1:c.*658C>A | ENSP00000505658.1:n.*658C>A | |
| ENST00000680743.1:c.*859C>A | ENSP00000505073.1:n.*859C>A | |
| ENST00000680749.1:c.*355C>A | ENSP00000505122.1:n.*355C>A | |
| ENST00000680798.1:c.*545C>A | ENSP00000505670.1:n.*545C>A | |
| ENST00000680805.1:c.929C>A | ENSP00000505447.1:p.Ala310Glu | |
| ENST00000680844.1:c.*854C>A | ENSP00000506541.1:n.*854C>A | |
| ENST00000680948.1:c.*937C>A | ENSP00000505441.1:n.*937C>A | |
| ENST00000680964.1:c.*163C>A | ENSP00000505961.1:n.*163C>A | |
| ENST00000681037.1:c.*2554C>A | ENSP00000506025.1:n.*2554C>A | |
| ENST00000681063.1:c.*339C>A | ENSP00000506616.1:n.*339C>A | |
| ENST00000681209.1:c.*725C>A | ENSP00000505877.1:n.*725C>A | |
| ENST00000681278.1:n.1772C>A | ||
| ENST00000681289.1:n.5065C>A | ||
| ENST00000681361.1:c.*737C>A | ENSP00000506679.1:n.*737C>A | |
| ENST00000681430.1:c.*163C>A | ENSP00000506301.1:n.*163C>A | |
| ENST00000681446.1:c.*774C>A | ENSP00000506244.1:n.*774C>A | |
| ENST00000681450.1:c.*741C>A | ENSP00000505660.1:n.*741C>A | |
| ENST00000681548.1:c.*656C>A | ENSP00000505275.1:n.*656C>A | |
| ENST00000681616.1:c.*729C>A | ENSP00000505111.1:n.*729C>A | |
| ENST00000681621.1:c.*654C>A | ENSP00000505770.1:n.*654C>A | |
| ENST00000681680.1:n.3165C>A | ||
| ENST00000681720.1:c.*525C>A | ENSP00000505438.1:n.*525C>A | |
| ENST00000681730.1:n.1292C>A | ||
| ENST00000681790.1:c.812C>A | ENSP00000505130.1:p.Ala271Glu | |
| ENST00000681837.1:n.1686C>A | ||
| ENST00000681913.1:n.3316C>A | ||
| ENST00000681916.1:c.*838C>A | ENSP00000506477.1:n.*838C>A | |
| ENST00000681930.1:n.3194C>A | ||
| ENST00000370834.9:c.1169C>A | ENSP00000359871.5:p.Ala390Glu | |
| ENST00000370841.8:c.1070C>A | ENSP00000359878.4:p.Ala357Glu | |
| ENST00000420607.6:c.1082C>A | ENSP00000409612.2:p.Ala361Glu | |
| ENST00000481374.1:n.343C>A | ||
| ENST00000525808.5:c.*656C>A | ENSP00000434823.1:n.*656C>A | |
| ENST00000526129.5:c.*854C>A | ENSP00000434092.1:n.*854C>A | |
| ENST00000526196.5:c.*838C>A | ENSP00000431953.1:n.*838C>A | |
| ENST00000528016.1:c.160-7931C>A | ENSP00000434284.1:n.160-7931C>A | |
| ENST00000529059.5:n.979C>A | ||
| ENST00000534334.5:c.*811C>A | ENSP00000435584.1:n.*811C>A | |
| ENST00000541113.5:c.962C>A | ENSP00000442324.1:p.Ala321Glu | |
| NM_000016.5:c.1070C>A | NP_000007.1:p.Ala357Glu | |
| NM_001127328.2:c.1082C>A | NP_001120800.1:p.Ala361Glu | |
| NM_001286042.1:c.962C>A | NP_001272971.1:p.Ala321Glu | |
| NM_001286043.1:c.1169C>A | NP_001272972.1:p.Ala390Glu | |
| NM_001286044.1:c.503C>A | NP_001272973.1:p.Ala168Glu | |
| NM_000016.6:c.1070C>A MANE Select | NP_000007.1:p.Ala357Glu | |
| NM_001127328.3:c.1082C>A | NP_001120800.1:p.Ala361Glu | |
| NM_001286042.2:c.962C>A | NP_001272971.1:p.Ala321Glu | |
| NM_001286043.2:c.1169C>A | NP_001272972.1:p.Ala390Glu | |
| NM_001286044.2:c.503C>A | NP_001272973.1:p.Ala168Glu |