Linked Data
ClinVar Variation Id:
570397
dbSNP Id:
rs1348176225
gnomAD v3:
1-75749427-C-G
gnomAD v4:
1-75749427-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749427C>G , CM000663.2:g.75749427C>G | GRCh38 |
| NC_000001.10:g.76215112C>G , CM000663.1:g.76215112C>G | GRCh37 |
| NC_000001.9:g.75987700C>G | NCBI36 |
| NG_007045.2:g.30070C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.717C>G MANE Select | ENSP00000359878.5:p.Asn239Lys | |
| ENST00000473018.3:n.2841C>G | ||
| ENST00000532207.6:n.1606C>G | ||
| ENST00000541113.6:c.717C>G | ENSP00000442324.2:p.Asn239Lys | |
| ENST00000679509.1:n.1679C>G | ||
| ENST00000679530.1:c.*485C>G | ENSP00000506454.1:n.*485C>G | |
| ENST00000679615.1:n.2732C>G | ||
| ENST00000679687.1:c.279C>G | ENSP00000506598.1:p.Asn93Lys | |
| ENST00000679704.1:c.*483C>G | ENSP00000505117.1:n.*483C>G | |
| ENST00000679709.1:c.*680C>G | ENSP00000506623.1:n.*680C>G | |
| ENST00000679976.1:c.*301C>G | ENSP00000505565.1:n.*301C>G | |
| ENST00000680166.1:n.4006C>G | ||
| ENST00000680517.1:c.*105C>G | ENSP00000505803.1:n.*105C>G | |
| ENST00000680582.1:n.1679C>G | ||
| ENST00000680613.1:c.*88C>G | ENSP00000506114.1:n.*88C>G | |
| ENST00000680662.1:c.*631C>G | ENSP00000505080.1:n.*631C>G | |
| ENST00000680691.1:c.*380C>G | ENSP00000506487.1:n.*380C>G | |
| ENST00000680694.1:c.*305C>G | ENSP00000505658.1:n.*305C>G | |
| ENST00000680743.1:c.*384C>G | ENSP00000505073.1:n.*384C>G | |
| ENST00000680749.1:c.*2C>G | ENSP00000505122.1:n.*2C>G | |
| ENST00000680798.1:c.*192C>G | ENSP00000505670.1:n.*192C>G | |
| ENST00000680805.1:c.709-1024C>G | ENSP00000505447.1:n.709-1024C>G | |
| ENST00000680844.1:c.*501C>G | ENSP00000506541.1:n.*501C>G | |
| ENST00000680948.1:c.*584C>G | ENSP00000505441.1:n.*584C>G | |
| ENST00000680964.1:c.717C>G | ENSP00000505961.1:p.Asn239Lys | |
| ENST00000681037.1:c.*2201C>G | ENSP00000506025.1:n.*2201C>G | |
| ENST00000681063.1:c.600-1024C>G | ENSP00000506616.1:n.600-1024C>G | |
| ENST00000681209.1:c.*372C>G | ENSP00000505877.1:n.*372C>G | |
| ENST00000681278.1:n.1074C>G | ||
| ENST00000681289.1:n.4712C>G | ||
| ENST00000681361.1:c.*384C>G | ENSP00000506679.1:n.*384C>G | |
| ENST00000681430.1:c.717C>G | ENSP00000506301.1:p.Asn239Lys | |
| ENST00000681446.1:c.*299C>G | ENSP00000506244.1:n.*299C>G | |
| ENST00000681450.1:c.*388C>G | ENSP00000505660.1:n.*388C>G | |
| ENST00000681548.1:c.*303C>G | ENSP00000505275.1:n.*303C>G | |
| ENST00000681616.1:c.*376C>G | ENSP00000505111.1:n.*376C>G | |
| ENST00000681621.1:c.*301C>G | ENSP00000505770.1:n.*301C>G | |
| ENST00000681680.1:n.2812C>G | ||
| ENST00000681720.1:c.*172C>G | ENSP00000505438.1:n.*172C>G | |
| ENST00000681730.1:n.939C>G | ||
| ENST00000681790.1:c.459C>G | ENSP00000505130.1:p.Asn153Lys | |
| ENST00000681837.1:n.1333C>G | ||
| ENST00000681913.1:n.2841C>G | ||
| ENST00000681916.1:c.*485C>G | ENSP00000506477.1:n.*485C>G | |
| ENST00000681930.1:n.2841C>G | ||
| ENST00000370834.9:c.816C>G | ENSP00000359871.5:p.Asn272Lys | |
| ENST00000370841.8:c.717C>G | ENSP00000359878.4:p.Asn239Lys | |
| ENST00000420607.6:c.729C>G | ENSP00000409612.2:p.Asn243Lys | |
| ENST00000525808.5:c.*303C>G | ENSP00000434823.1:n.*303C>G | |
| ENST00000526129.5:c.*501C>G | ENSP00000434092.1:n.*501C>G | |
| ENST00000526196.5:c.*485C>G | ENSP00000431953.1:n.*485C>G | |
| ENST00000526930.1:n.490C>G | ||
| ENST00000529059.5:n.626C>G | ||
| ENST00000530953.6:c.*214C>G | ENSP00000431372.1:n.*214C>G | |
| ENST00000532207.5:n.447C>G | ||
| ENST00000532509.5:c.*481C>G | ENSP00000432522.1:n.*481C>G | |
| ENST00000534334.5:c.*301C>G | ENSP00000435584.1:n.*301C>G | |
| ENST00000541113.5:c.609C>G | ENSP00000442324.1:p.Asn203Lys | |
| NM_000016.5:c.717C>G | NP_000007.1:p.Asn239Lys | |
| NM_001127328.2:c.729C>G | NP_001120800.1:p.Asn243Lys | |
| NM_001286042.1:c.609C>G | NP_001272971.1:p.Asn203Lys | |
| NM_001286043.1:c.816C>G | NP_001272972.1:p.Asn272Lys | |
| NM_001286044.1:c.150C>G | NP_001272973.1:p.Asn50Lys | |
| NM_000016.6:c.717C>G MANE Select | NP_000007.1:p.Asn239Lys | |
| NM_001127328.3:c.729C>G | NP_001120800.1:p.Asn243Lys | |
| NM_001286042.2:c.609C>G | NP_001272971.1:p.Asn203Lys | |
| NM_001286043.2:c.816C>G | NP_001272972.1:p.Asn272Lys | |
| NM_001286044.2:c.150C>G | NP_001272973.1:p.Asn50Lys |