Linked Data
ClinVar Variation Id:
280945
dbSNP Id:
rs886042054
gnomAD v2:
1-76226880-C-T
gnomAD v3:
1-75761195-C-T
gnomAD v4:
1-75761195-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761195C>T , CM000663.2:g.75761195C>T | GRCh38 |
| NC_000001.10:g.76226880C>T , CM000663.1:g.76226880C>T | GRCh37 |
| NC_000001.9:g.75999468C>T | NCBI36 |
| NG_007045.2:g.41838C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1019C>T MANE Select | ENSP00000359878.5:p.Ala340Val | |
| ENST00000473018.3:n.3143C>T | ||
| ENST00000532207.6:n.2030C>T | ||
| ENST00000541113.6:c.923C>T | ENSP00000442324.2:p.Ala308Val | |
| ENST00000679509.1:n.1981C>T | ||
| ENST00000679530.1:c.*787C>T | ENSP00000506454.1:n.*787C>T | |
| ENST00000679615.1:n.3034C>T | ||
| ENST00000679687.1:c.581C>T | ENSP00000506598.1:p.Ala194Val | |
| ENST00000679704.1:c.*785C>T | ENSP00000505117.1:n.*785C>T | |
| ENST00000679709.1:c.*982C>T | ENSP00000506623.1:n.*982C>T | |
| ENST00000679976.1:c.*603C>T | ENSP00000505565.1:n.*603C>T | |
| ENST00000680166.1:n.4308C>T | ||
| ENST00000680315.1:n.902C>T | ||
| ENST00000680517.1:c.*407C>T | ENSP00000505803.1:n.*407C>T | |
| ENST00000680582.1:n.1981C>T | ||
| ENST00000680613.1:c.*512C>T | ENSP00000506114.1:n.*512C>T | |
| ENST00000680662.1:c.*933C>T | ENSP00000505080.1:n.*933C>T | |
| ENST00000680691.1:c.*682C>T | ENSP00000506487.1:n.*682C>T | |
| ENST00000680694.1:c.*607C>T | ENSP00000505658.1:n.*607C>T | |
| ENST00000680743.1:c.*808C>T | ENSP00000505073.1:n.*808C>T | |
| ENST00000680749.1:c.*304C>T | ENSP00000505122.1:n.*304C>T | |
| ENST00000680798.1:c.*494C>T | ENSP00000505670.1:n.*494C>T | |
| ENST00000680805.1:c.878C>T | ENSP00000505447.1:p.Ala293Val | |
| ENST00000680844.1:c.*803C>T | ENSP00000506541.1:n.*803C>T | |
| ENST00000680948.1:c.*886C>T | ENSP00000505441.1:n.*886C>T | |
| ENST00000680964.1:c.*112C>T | ENSP00000505961.1:n.*112C>T | |
| ENST00000681037.1:c.*2503C>T | ENSP00000506025.1:n.*2503C>T | |
| ENST00000681063.1:c.*288C>T | ENSP00000506616.1:n.*288C>T | |
| ENST00000681209.1:c.*674C>T | ENSP00000505877.1:n.*674C>T | |
| ENST00000681278.1:n.1721C>T | ||
| ENST00000681289.1:n.5014C>T | ||
| ENST00000681361.1:c.*686C>T | ENSP00000506679.1:n.*686C>T | |
| ENST00000681430.1:c.*112C>T | ENSP00000506301.1:n.*112C>T | |
| ENST00000681446.1:c.*723C>T | ENSP00000506244.1:n.*723C>T | |
| ENST00000681450.1:c.*690C>T | ENSP00000505660.1:n.*690C>T | |
| ENST00000681548.1:c.*605C>T | ENSP00000505275.1:n.*605C>T | |
| ENST00000681616.1:c.*678C>T | ENSP00000505111.1:n.*678C>T | |
| ENST00000681621.1:c.*603C>T | ENSP00000505770.1:n.*603C>T | |
| ENST00000681680.1:n.3114C>T | ||
| ENST00000681720.1:c.*474C>T | ENSP00000505438.1:n.*474C>T | |
| ENST00000681730.1:n.1241C>T | ||
| ENST00000681790.1:c.761C>T | ENSP00000505130.1:p.Ala254Val | |
| ENST00000681837.1:n.1635C>T | ||
| ENST00000681913.1:n.3265C>T | ||
| ENST00000681916.1:c.*787C>T | ENSP00000506477.1:n.*787C>T | |
| ENST00000681930.1:n.3143C>T | ||
| ENST00000370834.9:c.1118C>T | ENSP00000359871.5:p.Ala373Val | |
| ENST00000370841.8:c.1019C>T | ENSP00000359878.4:p.Ala340Val | |
| ENST00000420607.6:c.1031C>T | ENSP00000409612.2:p.Ala344Val | |
| ENST00000481374.1:n.292C>T | ||
| ENST00000525808.5:c.*605C>T | ENSP00000434823.1:n.*605C>T | |
| ENST00000526129.5:c.*803C>T | ENSP00000434092.1:n.*803C>T | |
| ENST00000526196.5:c.*787C>T | ENSP00000431953.1:n.*787C>T | |
| ENST00000528016.1:c.160-7982C>T | ENSP00000434284.1:n.160-7982C>T | |
| ENST00000529059.5:n.928C>T | ||
| ENST00000532207.5:n.749C>T | ||
| ENST00000534334.5:c.*760C>T | ENSP00000435584.1:n.*760C>T | |
| ENST00000541113.5:c.911C>T | ENSP00000442324.1:p.Ala304Val | |
| NM_000016.5:c.1019C>T | NP_000007.1:p.Ala340Val | |
| NM_001127328.2:c.1031C>T | NP_001120800.1:p.Ala344Val | |
| NM_001286042.1:c.911C>T | NP_001272971.1:p.Ala304Val | |
| NM_001286043.1:c.1118C>T | NP_001272972.1:p.Ala373Val | |
| NM_001286044.1:c.452C>T | NP_001272973.1:p.Ala151Val | |
| NM_000016.6:c.1019C>T MANE Select | NP_000007.1:p.Ala340Val | |
| NM_001127328.3:c.1031C>T | NP_001120800.1:p.Ala344Val | |
| NM_001286042.2:c.911C>T | NP_001272971.1:p.Ala304Val | |
| NM_001286043.2:c.1118C>T | NP_001272972.1:p.Ala373Val | |
| NM_001286044.2:c.452C>T | NP_001272973.1:p.Ala151Val |