Linked Data
ClinVar Variation Id:
203542
dbSNP Id:
rs766140986
ExAC:
1:76226913 C / T
gnomAD v2:
1-76226913-C-T
gnomAD v3:
1-75761228-C-T
gnomAD v4:
1-75761228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761228C>T , CM000663.2:g.75761228C>T | GRCh38 |
| NC_000001.10:g.76226913C>T , CM000663.1:g.76226913C>T | GRCh37 |
| NC_000001.9:g.75999501C>T | NCBI36 |
| NG_007045.2:g.41871C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1052C>T MANE Select | ENSP00000359878.5:p.Thr351Ile | |
| ENST00000473018.3:n.3176C>T | ||
| ENST00000532207.6:n.2063C>T | ||
| ENST00000541113.6:c.956C>T | ENSP00000442324.2:p.Thr319Ile | |
| ENST00000679509.1:n.2014C>T | ||
| ENST00000679530.1:c.*820C>T | ENSP00000506454.1:n.*820C>T | |
| ENST00000679615.1:n.3067C>T | ||
| ENST00000679687.1:c.614C>T | ENSP00000506598.1:p.Thr205Ile | |
| ENST00000679704.1:c.*818C>T | ENSP00000505117.1:n.*818C>T | |
| ENST00000679709.1:c.*1015C>T | ENSP00000506623.1:n.*1015C>T | |
| ENST00000679976.1:c.*636C>T | ENSP00000505565.1:n.*636C>T | |
| ENST00000680166.1:n.4341C>T | ||
| ENST00000680315.1:n.935C>T | ||
| ENST00000680517.1:c.*440C>T | ENSP00000505803.1:n.*440C>T | |
| ENST00000680582.1:n.2014C>T | ||
| ENST00000680613.1:c.*545C>T | ENSP00000506114.1:n.*545C>T | |
| ENST00000680662.1:c.*966C>T | ENSP00000505080.1:n.*966C>T | |
| ENST00000680691.1:c.*715C>T | ENSP00000506487.1:n.*715C>T | |
| ENST00000680694.1:c.*640C>T | ENSP00000505658.1:n.*640C>T | |
| ENST00000680743.1:c.*841C>T | ENSP00000505073.1:n.*841C>T | |
| ENST00000680749.1:c.*337C>T | ENSP00000505122.1:n.*337C>T | |
| ENST00000680798.1:c.*527C>T | ENSP00000505670.1:n.*527C>T | |
| ENST00000680805.1:c.911C>T | ENSP00000505447.1:p.Thr304Ile | |
| ENST00000680844.1:c.*836C>T | ENSP00000506541.1:n.*836C>T | |
| ENST00000680948.1:c.*919C>T | ENSP00000505441.1:n.*919C>T | |
| ENST00000680964.1:c.*145C>T | ENSP00000505961.1:n.*145C>T | |
| ENST00000681037.1:c.*2536C>T | ENSP00000506025.1:n.*2536C>T | |
| ENST00000681063.1:c.*321C>T | ENSP00000506616.1:n.*321C>T | |
| ENST00000681209.1:c.*707C>T | ENSP00000505877.1:n.*707C>T | |
| ENST00000681278.1:n.1754C>T | ||
| ENST00000681289.1:n.5047C>T | ||
| ENST00000681361.1:c.*719C>T | ENSP00000506679.1:n.*719C>T | |
| ENST00000681430.1:c.*145C>T | ENSP00000506301.1:n.*145C>T | |
| ENST00000681446.1:c.*756C>T | ENSP00000506244.1:n.*756C>T | |
| ENST00000681450.1:c.*723C>T | ENSP00000505660.1:n.*723C>T | |
| ENST00000681548.1:c.*638C>T | ENSP00000505275.1:n.*638C>T | |
| ENST00000681616.1:c.*711C>T | ENSP00000505111.1:n.*711C>T | |
| ENST00000681621.1:c.*636C>T | ENSP00000505770.1:n.*636C>T | |
| ENST00000681680.1:n.3147C>T | ||
| ENST00000681720.1:c.*507C>T | ENSP00000505438.1:n.*507C>T | |
| ENST00000681730.1:n.1274C>T | ||
| ENST00000681790.1:c.794C>T | ENSP00000505130.1:p.Thr265Ile | |
| ENST00000681837.1:n.1668C>T | ||
| ENST00000681913.1:n.3298C>T | ||
| ENST00000681916.1:c.*820C>T | ENSP00000506477.1:n.*820C>T | |
| ENST00000681930.1:n.3176C>T | ||
| ENST00000370834.9:c.1151C>T | ENSP00000359871.5:p.Thr384Ile | |
| ENST00000370841.8:c.1052C>T | ENSP00000359878.4:p.Thr351Ile | |
| ENST00000420607.6:c.1064C>T | ENSP00000409612.2:p.Thr355Ile | |
| ENST00000481374.1:n.325C>T | ||
| ENST00000525808.5:c.*638C>T | ENSP00000434823.1:n.*638C>T | |
| ENST00000526129.5:c.*836C>T | ENSP00000434092.1:n.*836C>T | |
| ENST00000526196.5:c.*820C>T | ENSP00000431953.1:n.*820C>T | |
| ENST00000528016.1:c.160-7949C>T | ENSP00000434284.1:n.160-7949C>T | |
| ENST00000529059.5:n.961C>T | ||
| ENST00000534334.5:c.*793C>T | ENSP00000435584.1:n.*793C>T | |
| ENST00000541113.5:c.944C>T | ENSP00000442324.1:p.Thr315Ile | |
| NM_000016.5:c.1052C>T | NP_000007.1:p.Thr351Ile | |
| NM_001127328.2:c.1064C>T | NP_001120800.1:p.Thr355Ile | |
| NM_001286042.1:c.944C>T | NP_001272971.1:p.Thr315Ile | |
| NM_001286043.1:c.1151C>T | NP_001272972.1:p.Thr384Ile | |
| NM_001286044.1:c.485C>T | NP_001272973.1:p.Thr162Ile | |
| NM_000016.6:c.1052C>T MANE Select | NP_000007.1:p.Thr351Ile | |
| NM_001127328.3:c.1064C>T | NP_001120800.1:p.Thr355Ile | |
| NM_001286042.2:c.944C>T | NP_001272971.1:p.Thr315Ile | |
| NM_001286043.2:c.1151C>T | NP_001272972.1:p.Thr384Ile | |
| NM_001286044.2:c.485C>T | NP_001272973.1:p.Thr162Ile |