Linked Data
ClinVar Variation Id:
1500017
ClinVar RCV Id:
RCV002013214
dbSNP Id:
rs2100417374
gnomAD v4:
1-75749431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749431G>A , CM000663.2:g.75749431G>A | GRCh38 |
| NC_000001.10:g.76215116G>A , CM000663.1:g.76215116G>A | GRCh37 |
| NC_000001.9:g.75987704G>A | NCBI36 |
| NG_007045.2:g.30074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.721G>A MANE Select | ENSP00000359878.5:p.Gly241Ser | |
| ENST00000473018.3:n.2845G>A | ||
| ENST00000532207.6:n.1610G>A | ||
| ENST00000541113.6:c.721G>A | ENSP00000442324.2:p.Gly241Ser | |
| ENST00000679509.1:n.1683G>A | ||
| ENST00000679530.1:c.*489G>A | ENSP00000506454.1:n.*489G>A | |
| ENST00000679615.1:n.2736G>A | ||
| ENST00000679687.1:c.283G>A | ENSP00000506598.1:p.Gly95Ser | |
| ENST00000679704.1:c.*487G>A | ENSP00000505117.1:n.*487G>A | |
| ENST00000679709.1:c.*684G>A | ENSP00000506623.1:n.*684G>A | |
| ENST00000679976.1:c.*305G>A | ENSP00000505565.1:n.*305G>A | |
| ENST00000680166.1:n.4010G>A | ||
| ENST00000680517.1:c.*109G>A | ENSP00000505803.1:n.*109G>A | |
| ENST00000680582.1:n.1683G>A | ||
| ENST00000680613.1:c.*92G>A | ENSP00000506114.1:n.*92G>A | |
| ENST00000680662.1:c.*635G>A | ENSP00000505080.1:n.*635G>A | |
| ENST00000680691.1:c.*384G>A | ENSP00000506487.1:n.*384G>A | |
| ENST00000680694.1:c.*309G>A | ENSP00000505658.1:n.*309G>A | |
| ENST00000680743.1:c.*388G>A | ENSP00000505073.1:n.*388G>A | |
| ENST00000680749.1:c.*6G>A | ENSP00000505122.1:n.*6G>A | |
| ENST00000680798.1:c.*196G>A | ENSP00000505670.1:n.*196G>A | |
| ENST00000680805.1:c.709-1020G>A | ENSP00000505447.1:n.709-1020G>A | |
| ENST00000680844.1:c.*505G>A | ENSP00000506541.1:n.*505G>A | |
| ENST00000680948.1:c.*588G>A | ENSP00000505441.1:n.*588G>A | |
| ENST00000680964.1:c.721G>A | ENSP00000505961.1:p.Gly241Ser | |
| ENST00000681037.1:c.*2205G>A | ENSP00000506025.1:n.*2205G>A | |
| ENST00000681063.1:c.600-1020G>A | ENSP00000506616.1:n.600-1020G>A | |
| ENST00000681209.1:c.*376G>A | ENSP00000505877.1:n.*376G>A | |
| ENST00000681278.1:n.1078G>A | ||
| ENST00000681289.1:n.4716G>A | ||
| ENST00000681361.1:c.*388G>A | ENSP00000506679.1:n.*388G>A | |
| ENST00000681430.1:c.721G>A | ENSP00000506301.1:p.Gly241Ser | |
| ENST00000681446.1:c.*303G>A | ENSP00000506244.1:n.*303G>A | |
| ENST00000681450.1:c.*392G>A | ENSP00000505660.1:n.*392G>A | |
| ENST00000681548.1:c.*307G>A | ENSP00000505275.1:n.*307G>A | |
| ENST00000681616.1:c.*380G>A | ENSP00000505111.1:n.*380G>A | |
| ENST00000681621.1:c.*305G>A | ENSP00000505770.1:n.*305G>A | |
| ENST00000681680.1:n.2816G>A | ||
| ENST00000681720.1:c.*176G>A | ENSP00000505438.1:n.*176G>A | |
| ENST00000681730.1:n.943G>A | ||
| ENST00000681790.1:c.463G>A | ENSP00000505130.1:p.Gly155Ser | |
| ENST00000681837.1:n.1337G>A | ||
| ENST00000681913.1:n.2845G>A | ||
| ENST00000681916.1:c.*489G>A | ENSP00000506477.1:n.*489G>A | |
| ENST00000681930.1:n.2845G>A | ||
| ENST00000370834.9:c.820G>A | ENSP00000359871.5:p.Gly274Ser | |
| ENST00000370841.8:c.721G>A | ENSP00000359878.4:p.Gly241Ser | |
| ENST00000420607.6:c.733G>A | ENSP00000409612.2:p.Gly245Ser | |
| ENST00000525808.5:c.*307G>A | ENSP00000434823.1:n.*307G>A | |
| ENST00000526129.5:c.*505G>A | ENSP00000434092.1:n.*505G>A | |
| ENST00000526196.5:c.*489G>A | ENSP00000431953.1:n.*489G>A | |
| ENST00000526930.1:n.494G>A | ||
| ENST00000529059.5:n.630G>A | ||
| ENST00000530953.6:c.*218G>A | ENSP00000431372.1:n.*218G>A | |
| ENST00000532207.5:n.451G>A | ||
| ENST00000532509.5:c.*485G>A | ENSP00000432522.1:n.*485G>A | |
| ENST00000534334.5:c.*305G>A | ENSP00000435584.1:n.*305G>A | |
| ENST00000541113.5:c.613G>A | ENSP00000442324.1:p.Gly205Ser | |
| NM_000016.5:c.721G>A | NP_000007.1:p.Gly241Ser | |
| NM_001127328.2:c.733G>A | NP_001120800.1:p.Gly245Ser | |
| NM_001286042.1:c.613G>A | NP_001272971.1:p.Gly205Ser | |
| NM_001286043.1:c.820G>A | NP_001272972.1:p.Gly274Ser | |
| NM_001286044.1:c.154G>A | NP_001272973.1:p.Gly52Ser | |
| NM_000016.6:c.721G>A MANE Select | NP_000007.1:p.Gly241Ser | |
| NM_001127328.3:c.733G>A | NP_001120800.1:p.Gly245Ser | |
| NM_001286042.2:c.613G>A | NP_001272971.1:p.Gly205Ser | |
| NM_001286043.2:c.820G>A | NP_001272972.1:p.Gly274Ser | |
| NM_001286044.2:c.154G>A | NP_001272973.1:p.Gly52Ser |