Linked Data
dbSNP Id:
rs1057516485
gnomAD v2:
1-76226820-C-T
gnomAD v3:
1-75761135-C-T
gnomAD v4:
1-75761135-C-T
COSMIC:
COSM3492384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761135C>T , CM000663.2:g.75761135C>T | GRCh38 |
| NC_000001.10:g.76226820C>T , CM000663.1:g.76226820C>T | GRCh37 |
| NC_000001.9:g.75999408C>T | NCBI36 |
| NG_007045.2:g.41778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.959C>T MANE Select | ENSP00000359878.5:p.Ser320Leu | |
| ENST00000473018.3:n.3083C>T | ||
| ENST00000532207.6:n.1970C>T | ||
| ENST00000541113.6:c.863C>T | ENSP00000442324.2:p.Ser288Leu | |
| ENST00000679509.1:n.1921C>T | ||
| ENST00000679530.1:c.*727C>T | ENSP00000506454.1:n.*727C>T | |
| ENST00000679615.1:n.2974C>T | ||
| ENST00000679687.1:c.521C>T | ENSP00000506598.1:p.Ser174Leu | |
| ENST00000679704.1:c.*725C>T | ENSP00000505117.1:n.*725C>T | |
| ENST00000679709.1:c.*922C>T | ENSP00000506623.1:n.*922C>T | |
| ENST00000679976.1:c.*543C>T | ENSP00000505565.1:n.*543C>T | |
| ENST00000680166.1:n.4248C>T | ||
| ENST00000680315.1:n.842C>T | ||
| ENST00000680517.1:c.*347C>T | ENSP00000505803.1:n.*347C>T | |
| ENST00000680582.1:n.1921C>T | ||
| ENST00000680613.1:c.*452C>T | ENSP00000506114.1:n.*452C>T | |
| ENST00000680662.1:c.*873C>T | ENSP00000505080.1:n.*873C>T | |
| ENST00000680691.1:c.*622C>T | ENSP00000506487.1:n.*622C>T | |
| ENST00000680694.1:c.*547C>T | ENSP00000505658.1:n.*547C>T | |
| ENST00000680743.1:c.*748C>T | ENSP00000505073.1:n.*748C>T | |
| ENST00000680749.1:c.*244C>T | ENSP00000505122.1:n.*244C>T | |
| ENST00000680798.1:c.*434C>T | ENSP00000505670.1:n.*434C>T | |
| ENST00000680805.1:c.818C>T | ENSP00000505447.1:p.Ser273Leu | |
| ENST00000680844.1:c.*743C>T | ENSP00000506541.1:n.*743C>T | |
| ENST00000680948.1:c.*826C>T | ENSP00000505441.1:n.*826C>T | |
| ENST00000680964.1:c.*52C>T | ENSP00000505961.1:n.*52C>T | |
| ENST00000681037.1:c.*2443C>T | ENSP00000506025.1:n.*2443C>T | |
| ENST00000681063.1:c.*228C>T | ENSP00000506616.1:n.*228C>T | |
| ENST00000681209.1:c.*614C>T | ENSP00000505877.1:n.*614C>T | |
| ENST00000681278.1:n.1661C>T | ||
| ENST00000681289.1:n.4954C>T | ||
| ENST00000681361.1:c.*626C>T | ENSP00000506679.1:n.*626C>T | |
| ENST00000681430.1:c.*52C>T | ENSP00000506301.1:n.*52C>T | |
| ENST00000681446.1:c.*663C>T | ENSP00000506244.1:n.*663C>T | |
| ENST00000681450.1:c.*630C>T | ENSP00000505660.1:n.*630C>T | |
| ENST00000681548.1:c.*545C>T | ENSP00000505275.1:n.*545C>T | |
| ENST00000681616.1:c.*618C>T | ENSP00000505111.1:n.*618C>T | |
| ENST00000681621.1:c.*543C>T | ENSP00000505770.1:n.*543C>T | |
| ENST00000681680.1:n.3054C>T | ||
| ENST00000681720.1:c.*414C>T | ENSP00000505438.1:n.*414C>T | |
| ENST00000681730.1:n.1181C>T | ||
| ENST00000681790.1:c.701C>T | ENSP00000505130.1:p.Ser234Leu | |
| ENST00000681837.1:n.1575C>T | ||
| ENST00000681913.1:n.3205C>T | ||
| ENST00000681916.1:c.*727C>T | ENSP00000506477.1:n.*727C>T | |
| ENST00000681930.1:n.3083C>T | ||
| ENST00000370834.9:c.1058C>T | ENSP00000359871.5:p.Ser353Leu | |
| ENST00000370841.8:c.959C>T | ENSP00000359878.4:p.Ser320Leu | |
| ENST00000420607.6:c.971C>T | ENSP00000409612.2:p.Ser324Leu | |
| ENST00000481374.1:n.232C>T | ||
| ENST00000525808.5:c.*545C>T | ENSP00000434823.1:n.*545C>T | |
| ENST00000526129.5:c.*743C>T | ENSP00000434092.1:n.*743C>T | |
| ENST00000526196.5:c.*727C>T | ENSP00000431953.1:n.*727C>T | |
| ENST00000528016.1:c.160-8042C>T | ENSP00000434284.1:n.160-8042C>T | |
| ENST00000529059.5:n.868C>T | ||
| ENST00000532207.5:n.689C>T | ||
| ENST00000534334.5:c.*700C>T | ENSP00000435584.1:n.*700C>T | |
| ENST00000541113.5:c.851C>T | ENSP00000442324.1:p.Ser284Leu | |
| NM_000016.5:c.959C>T | NP_000007.1:p.Ser320Leu | |
| NM_001127328.2:c.971C>T | NP_001120800.1:p.Ser324Leu | |
| NM_001286042.1:c.851C>T | NP_001272971.1:p.Ser284Leu | |
| NM_001286043.1:c.1058C>T | NP_001272972.1:p.Ser353Leu | |
| NM_001286044.1:c.392C>T | NP_001272973.1:p.Ser131Leu | |
| NM_000016.6:c.959C>T MANE Select | NP_000007.1:p.Ser320Leu | |
| NM_001127328.3:c.971C>T | NP_001120800.1:p.Ser324Leu | |
| NM_001286042.2:c.851C>T | NP_001272971.1:p.Ser284Leu | |
| NM_001286043.2:c.1058C>T | NP_001272972.1:p.Ser353Leu | |
| NM_001286044.2:c.392C>T | NP_001272973.1:p.Ser131Leu |