Linked Data
ClinVar Variation Id:
500977
dbSNP Id:
rs544455125
ExAC:
5:118810153 T / C
gnomAD v2:
5-118810153-T-C
gnomAD v3:
5-119474458-T-C
gnomAD v4:
5-119474458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119474458T>C , CM000667.2:g.119474458T>C | GRCh38 |
| NC_000005.9:g.118810153T>C , CM000667.1:g.118810153T>C | GRCh37 |
| NC_000005.8:g.118838052T>C | NCBI36 |
| NG_008182.1:g.27006T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.278T>C | ENSP00000426272.2:p.Ile93Thr | |
| ENST00000512841.6:n.319T>C | ||
| ENST00000518349.6:c.112+18090T>C | ENSP00000507185.1:n.112+18090T>C | |
| ENST00000682445.1:c.*159T>C | ENSP00000508061.1:n.*159T>C | |
| ENST00000682531.1:n.379T>C | ||
| ENST00000682626.1:c.353T>C | ENSP00000507857.1:p.Ile118Thr | |
| ENST00000682996.1:c.278T>C | ENSP00000507792.1:p.Ile93Thr | |
| ENST00000683265.1:n.371T>C | ||
| ENST00000683371.1:c.*408T>C | ENSP00000508376.1:n.*408T>C | |
| ENST00000683390.1:n.326T>C | ||
| ENST00000683936.1:c.*163T>C | ENSP00000507721.1:n.*163T>C | |
| ENST00000683974.1:n.360T>C | ||
| ENST00000684160.1:c.353T>C | ENSP00000507821.1:p.Ile118Thr | |
| ENST00000684214.1:c.278T>C | ENSP00000508071.1:p.Ile93Thr | |
| ENST00000414835.7:c.353T>C | ENSP00000411960.3:p.Ile118Thr | |
| ENST00000510025.7:c.278T>C MANE Select | ENSP00000424940.3:p.Ile93Thr | |
| ENST00000643250.1:c.*159T>C | ENSP00000494737.1:n.*159T>C | |
| ENST00000644146.1:c.278T>C | ENSP00000494808.1:p.Ile93Thr | |
| ENST00000645832.1:c.*163T>C | ENSP00000494316.1:n.*163T>C | |
| ENST00000646058.1:c.278T>C | ENSP00000493579.1:p.Ile93Thr | |
| ENST00000646355.1:c.*284T>C | ENSP00000493801.1:n.*284T>C | |
| ENST00000646554.1:c.*159T>C | ENSP00000494542.1:n.*159T>C | |
| ENST00000646590.1:c.278T>C | ENSP00000494892.1:p.Ile93Thr | |
| ENST00000647335.1:c.*245T>C | ENSP00000495180.1:n.*245T>C | |
| ENST00000647342.1:c.*159T>C | ENSP00000494992.1:n.*159T>C | |
| ENST00000256216.10:c.278T>C | ENSP00000256216.6:p.Ile93Thr | |
| ENST00000414835.6:c.-134T>C | ENSP00000411960.2:n.-134T>C | |
| ENST00000442060.7:c.278T>C | ENSP00000390208.3:p.Ile93Thr | |
| ENST00000503168.5:n.267T>C | ||
| ENST00000504811.5:c.353T>C | ENSP00000420914.1:p.Ile118Thr | |
| ENST00000507695.1:n.222T>C | ||
| ENST00000510025.5:c.206T>C | ENSP00000424940.1:p.Ile69Thr | |
| ENST00000511186.5:n.381T>C | ||
| ENST00000512841.5:n.326T>C | ||
| ENST00000515235.6:n.338T>C | ||
| ENST00000515320.5:c.224T>C | ENSP00000424613.1:p.Ile75Thr | |
| NM_000414.3:c.278T>C | NP_000405.1:p.Ile93Thr | |
| NM_001199291.2:c.353T>C | NP_001186220.1:p.Ile118Thr | |
| NM_001199292.1:c.224T>C | NP_001186221.1:p.Ile75Thr | |
| NM_001292027.1:c.206T>C | NP_001278956.1:p.Ile69Thr | |
| NM_001292028.1:c.-134T>C | NP_001278957.1:n.-134T>C | |
| NM_000414.4:c.278T>C MANE Select | NP_000405.1:p.Ile93Thr | |
| NM_001199291.3:c.353T>C | NP_001186220.1:p.Ile118Thr | |
| NM_001199292.2:c.224T>C | NP_001186221.1:p.Ile75Thr | |
| NM_001292027.2:c.206T>C | NP_001278956.1:p.Ile69Thr | |
| NM_001292028.2:c.-134T>C | NP_001278957.1:n.-134T>C | |
| NM_001374497.1:c.278T>C | NP_001361426.1:p.Ile93Thr | |
| NM_001374498.1:c.278T>C | NP_001361427.1:p.Ile93Thr | |
| NM_001374499.1:c.-3T>C | NP_001361428.1:n.-3T>C | |
| NM_001374500.1:c.-261T>C | NP_001361429.1:n.-261T>C | |
| NM_001374501.1:c.-134T>C | NP_001361430.1:n.-134T>C | |
| NM_001374502.1:c.-134T>C | NP_001361431.1:n.-134T>C | |
| NM_001374503.1:c.-134T>C | NP_001361432.1:n.-134T>C | |
| NR_164653.1:n.357T>C | ||
| NR_164654.1:n.545T>C |