Linked Data
ClinVar Variation Id:
226097
dbSNP Id:
rs762114560
ExAC:
1:76198571 C / T
gnomAD v2:
1-76198571-C-T
gnomAD v3:
1-75732886-C-T
gnomAD v4:
1-75732886-C-T
COSMIC:
COSM912145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75732886C>T , CM000663.2:g.75732886C>T | GRCh38 |
| NC_000001.10:g.76198571C>T , CM000663.1:g.76198571C>T | GRCh37 |
| NC_000001.9:g.75971159C>T | NCBI36 |
| NG_007045.2:g.13529C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.250C>T MANE Select | ENSP00000359878.5:p.Leu84Phe | |
| ENST00000473018.3:n.607C>T | ||
| ENST00000525881.6:n.607C>T | ||
| ENST00000541113.6:c.250C>T | ENSP00000442324.2:p.Leu84Phe | |
| ENST00000679509.1:n.607C>T | ||
| ENST00000679530.1:c.*18C>T | ENSP00000506454.1:n.*18C>T | |
| ENST00000679615.1:n.607C>T | ||
| ENST00000679687.1:c.31-7094C>T | ENSP00000506598.1:n.31-7094C>T | |
| ENST00000679704.1:c.*18C>T | ENSP00000505117.1:n.*18C>T | |
| ENST00000679709.1:c.*213C>T | ENSP00000506623.1:n.*213C>T | |
| ENST00000679804.1:n.171C>T | ||
| ENST00000679976.1:c.250C>T | ENSP00000505565.1:p.Leu84Phe | |
| ENST00000680166.1:n.1772C>T | ||
| ENST00000680517.1:c.250C>T | ENSP00000505803.1:p.Leu84Phe | |
| ENST00000680582.1:n.607C>T | ||
| ENST00000680613.1:c.250C>T | ENSP00000506114.1:p.Leu84Phe | |
| ENST00000680662.1:c.*164C>T | ENSP00000505080.1:n.*164C>T | |
| ENST00000680691.1:c.*14C>T | ENSP00000506487.1:n.*14C>T | |
| ENST00000680694.1:c.250C>T | ENSP00000505658.1:p.Leu84Phe | |
| ENST00000680743.1:c.*18C>T | ENSP00000505073.1:n.*18C>T | |
| ENST00000680749.1:c.250C>T | ENSP00000505122.1:p.Leu84Phe | |
| ENST00000680798.1:c.250C>T | ENSP00000505670.1:p.Leu84Phe | |
| ENST00000680805.1:c.250C>T | ENSP00000505447.1:p.Leu84Phe | |
| ENST00000680844.1:c.*34C>T | ENSP00000506541.1:n.*34C>T | |
| ENST00000680948.1:c.*18C>T | ENSP00000505441.1:n.*18C>T | |
| ENST00000680964.1:c.250C>T | ENSP00000505961.1:p.Leu84Phe | |
| ENST00000681037.1:c.250C>T | ENSP00000506025.1:p.Leu84Phe | |
| ENST00000681063.1:c.250C>T | ENSP00000506616.1:p.Leu84Phe | |
| ENST00000681209.1:c.*14C>T | ENSP00000505877.1:n.*14C>T | |
| ENST00000681278.1:n.607C>T | ||
| ENST00000681289.1:n.607C>T | ||
| ENST00000681361.1:c.*18C>T | ENSP00000506679.1:n.*18C>T | |
| ENST00000681430.1:c.250C>T | ENSP00000506301.1:p.Leu84Phe | |
| ENST00000681446.1:c.250C>T | ENSP00000506244.1:p.Leu84Phe | |
| ENST00000681450.1:c.*18C>T | ENSP00000505660.1:n.*18C>T | |
| ENST00000681548.1:c.*18C>T | ENSP00000505275.1:n.*18C>T | |
| ENST00000681616.1:c.*18C>T | ENSP00000505111.1:n.*18C>T | |
| ENST00000681621.1:c.250C>T | ENSP00000505770.1:p.Leu84Phe | |
| ENST00000681680.1:n.607C>T | ||
| ENST00000681720.1:c.*18C>T | ENSP00000505438.1:n.*18C>T | |
| ENST00000681730.1:n.472C>T | ||
| ENST00000681790.1:c.-9C>T | ENSP00000505130.1:n.-9C>T | |
| ENST00000681837.1:n.261C>T | ||
| ENST00000681913.1:n.607C>T | ||
| ENST00000681916.1:c.*18C>T | ENSP00000506477.1:n.*18C>T | |
| ENST00000681930.1:n.607C>T | ||
| ENST00000370834.9:c.250C>T | ENSP00000359871.5:p.Leu84Phe | |
| ENST00000370841.8:c.250C>T | ENSP00000359878.4:p.Leu84Phe | |
| ENST00000420607.6:c.262C>T | ENSP00000409612.2:p.Leu88Phe | |
| ENST00000473018.2:n.283C>T | ||
| ENST00000525808.5:c.*18C>T | ENSP00000434823.1:n.*18C>T | |
| ENST00000525881.5:n.259C>T | ||
| ENST00000526129.5:c.*34C>T | ENSP00000434092.1:n.*34C>T | |
| ENST00000526196.5:c.*18C>T | ENSP00000431953.1:n.*18C>T | |
| ENST00000529059.5:n.260C>T | ||
| ENST00000530953.6:c.118+4398C>T | ENSP00000431372.1:n.118+4398C>T | |
| ENST00000532509.5:c.*14C>T | ENSP00000432522.1:n.*14C>T | |
| ENST00000534146.5:n.329C>T | ||
| ENST00000534334.5:c.250C>T | ENSP00000435584.1:p.Leu84Phe | |
| ENST00000541113.5:c.142C>T | ENSP00000442324.1:p.Leu48Phe | |
| NM_000016.5:c.250C>T | NP_000007.1:p.Leu84Phe | |
| NM_001127328.2:c.262C>T | NP_001120800.1:p.Leu88Phe | |
| NM_001286042.1:c.142C>T | NP_001272971.1:p.Leu48Phe | |
| NM_001286043.1:c.250C>T | NP_001272972.1:p.Leu84Phe | |
| NM_001286044.1:c.-136C>T | NP_001272973.1:n.-136C>T | |
| NM_000016.6:c.250C>T MANE Select | NP_000007.1:p.Leu84Phe | |
| NM_001127328.3:c.262C>T | NP_001120800.1:p.Leu88Phe | |
| NM_001286042.2:c.142C>T | NP_001272971.1:p.Leu48Phe | |
| NM_001286043.2:c.250C>T | NP_001272972.1:p.Leu84Phe | |
| NM_001286044.2:c.-136C>T | NP_001272973.1:n.-136C>T |