Linked Data
ClinVar Variation Id:
370532
ClinVar RCV Id:
RCV000412345
dbSNP Id:
rs1057516564
gnomAD v2:
1-76226810-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761125C>T , CM000663.2:g.75761125C>T | GRCh38 |
| NC_000001.10:g.76226810C>T , CM000663.1:g.76226810C>T | GRCh37 |
| NC_000001.9:g.75999398C>T | NCBI36 |
| NG_007045.2:g.41768C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.949C>T MANE Select | ENSP00000359878.5:p.Gln317Ter | |
| ENST00000473018.3:n.3073C>T | ||
| ENST00000532207.6:n.1960C>T | ||
| ENST00000541113.6:c.853C>T | ENSP00000442324.2:p.Gln285Ter | |
| ENST00000679509.1:n.1911C>T | ||
| ENST00000679530.1:c.*717C>T | ENSP00000506454.1:n.*717C>T | |
| ENST00000679615.1:n.2964C>T | ||
| ENST00000679687.1:c.511C>T | ENSP00000506598.1:p.Gln171Ter | |
| ENST00000679704.1:c.*715C>T | ENSP00000505117.1:n.*715C>T | |
| ENST00000679709.1:c.*912C>T | ENSP00000506623.1:n.*912C>T | |
| ENST00000679976.1:c.*533C>T | ENSP00000505565.1:n.*533C>T | |
| ENST00000680166.1:n.4238C>T | ||
| ENST00000680315.1:n.832C>T | ||
| ENST00000680517.1:c.*337C>T | ENSP00000505803.1:n.*337C>T | |
| ENST00000680582.1:n.1911C>T | ||
| ENST00000680613.1:c.*442C>T | ENSP00000506114.1:n.*442C>T | |
| ENST00000680662.1:c.*863C>T | ENSP00000505080.1:n.*863C>T | |
| ENST00000680691.1:c.*612C>T | ENSP00000506487.1:n.*612C>T | |
| ENST00000680694.1:c.*537C>T | ENSP00000505658.1:n.*537C>T | |
| ENST00000680743.1:c.*738C>T | ENSP00000505073.1:n.*738C>T | |
| ENST00000680749.1:c.*234C>T | ENSP00000505122.1:n.*234C>T | |
| ENST00000680798.1:c.*424C>T | ENSP00000505670.1:n.*424C>T | |
| ENST00000680805.1:c.808C>T | ENSP00000505447.1:p.Gln270Ter | |
| ENST00000680844.1:c.*733C>T | ENSP00000506541.1:n.*733C>T | |
| ENST00000680948.1:c.*816C>T | ENSP00000505441.1:n.*816C>T | |
| ENST00000680964.1:c.*42C>T | ENSP00000505961.1:n.*42C>T | |
| ENST00000681037.1:c.*2433C>T | ENSP00000506025.1:n.*2433C>T | |
| ENST00000681063.1:c.*218C>T | ENSP00000506616.1:n.*218C>T | |
| ENST00000681209.1:c.*604C>T | ENSP00000505877.1:n.*604C>T | |
| ENST00000681278.1:n.1651C>T | ||
| ENST00000681289.1:n.4944C>T | ||
| ENST00000681361.1:c.*616C>T | ENSP00000506679.1:n.*616C>T | |
| ENST00000681430.1:c.*42C>T | ENSP00000506301.1:n.*42C>T | |
| ENST00000681446.1:c.*653C>T | ENSP00000506244.1:n.*653C>T | |
| ENST00000681450.1:c.*620C>T | ENSP00000505660.1:n.*620C>T | |
| ENST00000681548.1:c.*535C>T | ENSP00000505275.1:n.*535C>T | |
| ENST00000681616.1:c.*608C>T | ENSP00000505111.1:n.*608C>T | |
| ENST00000681621.1:c.*533C>T | ENSP00000505770.1:n.*533C>T | |
| ENST00000681680.1:n.3044C>T | ||
| ENST00000681720.1:c.*404C>T | ENSP00000505438.1:n.*404C>T | |
| ENST00000681730.1:n.1171C>T | ||
| ENST00000681790.1:c.691C>T | ENSP00000505130.1:p.Gln231Ter | |
| ENST00000681837.1:n.1565C>T | ||
| ENST00000681913.1:n.3195C>T | ||
| ENST00000681916.1:c.*717C>T | ENSP00000506477.1:n.*717C>T | |
| ENST00000681930.1:n.3073C>T | ||
| ENST00000370834.9:c.1048C>T | ENSP00000359871.5:p.Gln350Ter | |
| ENST00000370841.8:c.949C>T | ENSP00000359878.4:p.Gln317Ter | |
| ENST00000420607.6:c.961C>T | ENSP00000409612.2:p.Gln321Ter | |
| ENST00000481374.1:n.222C>T | ||
| ENST00000525808.5:c.*535C>T | ENSP00000434823.1:n.*535C>T | |
| ENST00000526129.5:c.*733C>T | ENSP00000434092.1:n.*733C>T | |
| ENST00000526196.5:c.*717C>T | ENSP00000431953.1:n.*717C>T | |
| ENST00000528016.1:c.160-8052C>T | ENSP00000434284.1:n.160-8052C>T | |
| ENST00000529059.5:n.858C>T | ||
| ENST00000532207.5:n.679C>T | ||
| ENST00000534334.5:c.*690C>T | ENSP00000435584.1:n.*690C>T | |
| ENST00000541113.5:c.841C>T | ENSP00000442324.1:p.Gln281Ter | |
| NM_000016.5:c.949C>T | NP_000007.1:p.Gln317Ter | |
| NM_001127328.2:c.961C>T | NP_001120800.1:p.Gln321Ter | |
| NM_001286042.1:c.841C>T | NP_001272971.1:p.Gln281Ter | |
| NM_001286043.1:c.1048C>T | NP_001272972.1:p.Gln350Ter | |
| NM_001286044.1:c.382C>T | NP_001272973.1:p.Gln128Ter | |
| NM_000016.6:c.949C>T MANE Select | NP_000007.1:p.Gln317Ter | |
| NM_001127328.3:c.961C>T | NP_001120800.1:p.Gln321Ter | |
| NM_001286042.2:c.841C>T | NP_001272971.1:p.Gln281Ter | |
| NM_001286043.2:c.1048C>T | NP_001272972.1:p.Gln350Ter | |
| NM_001286044.2:c.382C>T | NP_001272973.1:p.Gln128Ter |