Linked Data
ClinVar Variation Id:
226087
ClinVar RCV Id:
RCV000211507
dbSNP Id:
rs796051896
gnomAD v2:
1-76226873-C-T
gnomAD v3:
1-75761188-C-T
gnomAD v4:
1-75761188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761188C>T , CM000663.2:g.75761188C>T | GRCh38 |
| NC_000001.10:g.76226873C>T , CM000663.1:g.76226873C>T | GRCh37 |
| NC_000001.9:g.75999461C>T | NCBI36 |
| NG_007045.2:g.41831C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1012C>T MANE Select | ENSP00000359878.5:p.Gln338Ter | |
| ENST00000473018.3:n.3136C>T | ||
| ENST00000532207.6:n.2023C>T | ||
| ENST00000541113.6:c.916C>T | ENSP00000442324.2:p.Gln306Ter | |
| ENST00000679509.1:n.1974C>T | ||
| ENST00000679530.1:c.*780C>T | ENSP00000506454.1:n.*780C>T | |
| ENST00000679615.1:n.3027C>T | ||
| ENST00000679687.1:c.574C>T | ENSP00000506598.1:p.Gln192Ter | |
| ENST00000679704.1:c.*778C>T | ENSP00000505117.1:n.*778C>T | |
| ENST00000679709.1:c.*975C>T | ENSP00000506623.1:n.*975C>T | |
| ENST00000679976.1:c.*596C>T | ENSP00000505565.1:n.*596C>T | |
| ENST00000680166.1:n.4301C>T | ||
| ENST00000680315.1:n.895C>T | ||
| ENST00000680517.1:c.*400C>T | ENSP00000505803.1:n.*400C>T | |
| ENST00000680582.1:n.1974C>T | ||
| ENST00000680613.1:c.*505C>T | ENSP00000506114.1:n.*505C>T | |
| ENST00000680662.1:c.*926C>T | ENSP00000505080.1:n.*926C>T | |
| ENST00000680691.1:c.*675C>T | ENSP00000506487.1:n.*675C>T | |
| ENST00000680694.1:c.*600C>T | ENSP00000505658.1:n.*600C>T | |
| ENST00000680743.1:c.*801C>T | ENSP00000505073.1:n.*801C>T | |
| ENST00000680749.1:c.*297C>T | ENSP00000505122.1:n.*297C>T | |
| ENST00000680798.1:c.*487C>T | ENSP00000505670.1:n.*487C>T | |
| ENST00000680805.1:c.871C>T | ENSP00000505447.1:p.Gln291Ter | |
| ENST00000680844.1:c.*796C>T | ENSP00000506541.1:n.*796C>T | |
| ENST00000680948.1:c.*879C>T | ENSP00000505441.1:n.*879C>T | |
| ENST00000680964.1:c.*105C>T | ENSP00000505961.1:n.*105C>T | |
| ENST00000681037.1:c.*2496C>T | ENSP00000506025.1:n.*2496C>T | |
| ENST00000681063.1:c.*281C>T | ENSP00000506616.1:n.*281C>T | |
| ENST00000681209.1:c.*667C>T | ENSP00000505877.1:n.*667C>T | |
| ENST00000681278.1:n.1714C>T | ||
| ENST00000681289.1:n.5007C>T | ||
| ENST00000681361.1:c.*679C>T | ENSP00000506679.1:n.*679C>T | |
| ENST00000681430.1:c.*105C>T | ENSP00000506301.1:n.*105C>T | |
| ENST00000681446.1:c.*716C>T | ENSP00000506244.1:n.*716C>T | |
| ENST00000681450.1:c.*683C>T | ENSP00000505660.1:n.*683C>T | |
| ENST00000681548.1:c.*598C>T | ENSP00000505275.1:n.*598C>T | |
| ENST00000681616.1:c.*671C>T | ENSP00000505111.1:n.*671C>T | |
| ENST00000681621.1:c.*596C>T | ENSP00000505770.1:n.*596C>T | |
| ENST00000681680.1:n.3107C>T | ||
| ENST00000681720.1:c.*467C>T | ENSP00000505438.1:n.*467C>T | |
| ENST00000681730.1:n.1234C>T | ||
| ENST00000681790.1:c.754C>T | ENSP00000505130.1:p.Gln252Ter | |
| ENST00000681837.1:n.1628C>T | ||
| ENST00000681913.1:n.3258C>T | ||
| ENST00000681916.1:c.*780C>T | ENSP00000506477.1:n.*780C>T | |
| ENST00000681930.1:n.3136C>T | ||
| ENST00000370834.9:c.1111C>T | ENSP00000359871.5:p.Gln371Ter | |
| ENST00000370841.8:c.1012C>T | ENSP00000359878.4:p.Gln338Ter | |
| ENST00000420607.6:c.1024C>T | ENSP00000409612.2:p.Gln342Ter | |
| ENST00000481374.1:n.285C>T | ||
| ENST00000525808.5:c.*598C>T | ENSP00000434823.1:n.*598C>T | |
| ENST00000526129.5:c.*796C>T | ENSP00000434092.1:n.*796C>T | |
| ENST00000526196.5:c.*780C>T | ENSP00000431953.1:n.*780C>T | |
| ENST00000528016.1:c.160-7989C>T | ENSP00000434284.1:n.160-7989C>T | |
| ENST00000529059.5:n.921C>T | ||
| ENST00000532207.5:n.742C>T | ||
| ENST00000534334.5:c.*753C>T | ENSP00000435584.1:n.*753C>T | |
| ENST00000541113.5:c.904C>T | ENSP00000442324.1:p.Gln302Ter | |
| NM_000016.5:c.1012C>T | NP_000007.1:p.Gln338Ter | |
| NM_001127328.2:c.1024C>T | NP_001120800.1:p.Gln342Ter | |
| NM_001286042.1:c.904C>T | NP_001272971.1:p.Gln302Ter | |
| NM_001286043.1:c.1111C>T | NP_001272972.1:p.Gln371Ter | |
| NM_001286044.1:c.445C>T | NP_001272973.1:p.Gln149Ter | |
| NM_000016.6:c.1012C>T MANE Select | NP_000007.1:p.Gln338Ter | |
| NM_001127328.3:c.1024C>T | NP_001120800.1:p.Gln342Ter | |
| NM_001286042.2:c.904C>T | NP_001272971.1:p.Gln302Ter | |
| NM_001286043.2:c.1111C>T | NP_001272972.1:p.Gln371Ter | |
| NM_001286044.2:c.445C>T | NP_001272973.1:p.Gln149Ter |