Linked Data
ClinVar Variation Id:
1101072
ClinVar RCV Id:
RCV001423898
dbSNP Id:
rs749692458
ExAC:
1:76215151 C / T
gnomAD v2:
1-76215151-C-T
gnomAD v3:
1-75749466-C-T
gnomAD v4:
1-75749466-C-T
COSMIC:
COSM912148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749466C>T , CM000663.2:g.75749466C>T | GRCh38 |
| NC_000001.10:g.76215151C>T , CM000663.1:g.76215151C>T | GRCh37 |
| NC_000001.9:g.75987739C>T | NCBI36 |
| NG_007045.2:g.30109C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.756C>T MANE Select | ENSP00000359878.5:p.Phe252= | |
| ENST00000473018.3:n.2880C>T | ||
| ENST00000532207.6:n.1645C>T | ||
| ENST00000541113.6:c.756C>T | ENSP00000442324.2:p.Phe252= | |
| ENST00000679509.1:n.1718C>T | ||
| ENST00000679530.1:c.*524C>T | ENSP00000506454.1:n.*524C>T | |
| ENST00000679615.1:n.2771C>T | ||
| ENST00000679687.1:c.318C>T | ENSP00000506598.1:p.Phe106= | |
| ENST00000679704.1:c.*522C>T | ENSP00000505117.1:n.*522C>T | |
| ENST00000679709.1:c.*719C>T | ENSP00000506623.1:n.*719C>T | |
| ENST00000679976.1:c.*340C>T | ENSP00000505565.1:n.*340C>T | |
| ENST00000680166.1:n.4045C>T | ||
| ENST00000680517.1:c.*144C>T | ENSP00000505803.1:n.*144C>T | |
| ENST00000680582.1:n.1718C>T | ||
| ENST00000680613.1:c.*127C>T | ENSP00000506114.1:n.*127C>T | |
| ENST00000680662.1:c.*670C>T | ENSP00000505080.1:n.*670C>T | |
| ENST00000680691.1:c.*419C>T | ENSP00000506487.1:n.*419C>T | |
| ENST00000680694.1:c.*344C>T | ENSP00000505658.1:n.*344C>T | |
| ENST00000680743.1:c.*423C>T | ENSP00000505073.1:n.*423C>T | |
| ENST00000680749.1:c.*41C>T | ENSP00000505122.1:n.*41C>T | |
| ENST00000680798.1:c.*231C>T | ENSP00000505670.1:n.*231C>T | |
| ENST00000680805.1:c.709-985C>T | ENSP00000505447.1:n.709-985C>T | |
| ENST00000680844.1:c.*540C>T | ENSP00000506541.1:n.*540C>T | |
| ENST00000680948.1:c.*623C>T | ENSP00000505441.1:n.*623C>T | |
| ENST00000680964.1:c.756C>T | ENSP00000505961.1:p.Phe252= | |
| ENST00000681037.1:c.*2240C>T | ENSP00000506025.1:n.*2240C>T | |
| ENST00000681063.1:c.600-985C>T | ENSP00000506616.1:n.600-985C>T | |
| ENST00000681209.1:c.*411C>T | ENSP00000505877.1:n.*411C>T | |
| ENST00000681278.1:n.1113C>T | ||
| ENST00000681289.1:n.4751C>T | ||
| ENST00000681361.1:c.*423C>T | ENSP00000506679.1:n.*423C>T | |
| ENST00000681430.1:c.756C>T | ENSP00000506301.1:p.Phe252= | |
| ENST00000681446.1:c.*338C>T | ENSP00000506244.1:n.*338C>T | |
| ENST00000681450.1:c.*427C>T | ENSP00000505660.1:n.*427C>T | |
| ENST00000681548.1:c.*342C>T | ENSP00000505275.1:n.*342C>T | |
| ENST00000681616.1:c.*415C>T | ENSP00000505111.1:n.*415C>T | |
| ENST00000681621.1:c.*340C>T | ENSP00000505770.1:n.*340C>T | |
| ENST00000681680.1:n.2851C>T | ||
| ENST00000681720.1:c.*211C>T | ENSP00000505438.1:n.*211C>T | |
| ENST00000681730.1:n.978C>T | ||
| ENST00000681790.1:c.498C>T | ENSP00000505130.1:p.Phe166= | |
| ENST00000681837.1:n.1372C>T | ||
| ENST00000681913.1:n.2880C>T | ||
| ENST00000681916.1:c.*524C>T | ENSP00000506477.1:n.*524C>T | |
| ENST00000681930.1:n.2880C>T | ||
| ENST00000370834.9:c.855C>T | ENSP00000359871.5:p.Phe285= | |
| ENST00000370841.8:c.756C>T | ENSP00000359878.4:p.Phe252= | |
| ENST00000420607.6:c.768C>T | ENSP00000409612.2:p.Phe256= | |
| ENST00000525808.5:c.*342C>T | ENSP00000434823.1:n.*342C>T | |
| ENST00000526129.5:c.*540C>T | ENSP00000434092.1:n.*540C>T | |
| ENST00000526196.5:c.*524C>T | ENSP00000431953.1:n.*524C>T | |
| ENST00000526930.1:n.529C>T | ||
| ENST00000529059.5:n.665C>T | ||
| ENST00000530953.6:c.*253C>T | ENSP00000431372.1:n.*253C>T | |
| ENST00000532207.5:n.486C>T | ||
| ENST00000532509.5:c.*520C>T | ENSP00000432522.1:n.*520C>T | |
| ENST00000534334.5:c.*340C>T | ENSP00000435584.1:n.*340C>T | |
| ENST00000541113.5:c.648C>T | ENSP00000442324.1:p.Phe216= | |
| NM_000016.5:c.756C>T | NP_000007.1:p.Phe252= | |
| NM_001127328.2:c.768C>T | NP_001120800.1:p.Phe256= | |
| NM_001286042.1:c.648C>T | NP_001272971.1:p.Phe216= | |
| NM_001286043.1:c.855C>T | NP_001272972.1:p.Phe285= | |
| NM_001286044.1:c.189C>T | NP_001272973.1:p.Phe63= | |
| NM_000016.6:c.756C>T MANE Select | NP_000007.1:p.Phe252= | |
| NM_001127328.3:c.768C>T | NP_001120800.1:p.Phe256= | |
| NM_001286042.2:c.648C>T | NP_001272971.1:p.Phe216= | |
| NM_001286043.2:c.855C>T | NP_001272972.1:p.Phe285= | |
| NM_001286044.2:c.189C>T | NP_001272973.1:p.Phe63= |