Linked Data
ClinVar Variation Id:
228741
ClinVar RCV Id:
RCV000222427
RCV000380697
RCV000731627
RCV000765793
RCV001083539
RCV004532757
RCV000344886
dbSNP Id:
rs150326995
ExAC:
5:118832319 C / T
gnomAD v2:
5-118832319-C-T
gnomAD v3:
5-119496624-C-T
gnomAD v4:
5-119496624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119496624C>T , CM000667.2:g.119496624C>T | GRCh38 |
| NC_000005.9:g.118832319C>T , CM000667.1:g.118832319C>T | GRCh37 |
| NC_000005.8:g.118860218C>T | NCBI36 |
| NG_008182.1:g.49172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.950C>T | ENSP00000426272.2:p.Thr317Met | |
| ENST00000518349.6:c.194C>T | ENSP00000507185.1:p.Thr65Met | |
| ENST00000682445.1:c.*831C>T | ENSP00000508061.1:n.*831C>T | |
| ENST00000682531.1:n.2842C>T | ||
| ENST00000682626.1:c.*456C>T | ENSP00000507857.1:n.*456C>T | |
| ENST00000682996.1:c.950C>T | ENSP00000507792.1:p.Thr317Met | |
| ENST00000683265.1:n.2736C>T | ||
| ENST00000683371.1:c.*1080C>T | ENSP00000508376.1:n.*1080C>T | |
| ENST00000683372.1:n.2960C>T | ||
| ENST00000683390.1:n.2640C>T | ||
| ENST00000683549.1:n.2564C>T | ||
| ENST00000683936.1:c.*2528C>T | ENSP00000507721.1:n.*2528C>T | |
| ENST00000683974.1:n.2725C>T | ||
| ENST00000683996.1:c.*160C>T | ENSP00000507060.1:n.*160C>T | |
| ENST00000684131.1:n.2482C>T | ||
| ENST00000684160.1:c.*640C>T | ENSP00000507821.1:n.*640C>T | |
| ENST00000684214.1:c.950C>T | ENSP00000508071.1:p.Thr317Met | |
| ENST00000414835.7:c.1025C>T | ENSP00000411960.3:p.Thr342Met | |
| ENST00000510025.7:c.950C>T MANE Select | ENSP00000424940.3:p.Thr317Met | |
| ENST00000643250.1:c.*822C>T | ENSP00000494737.1:n.*822C>T | |
| ENST00000644146.1:c.*2221C>T | ENSP00000494808.1:n.*2221C>T | |
| ENST00000645099.1:c.509C>T | ENSP00000496091.1:p.Thr170Met | |
| ENST00000645702.1:c.*353C>T | ENSP00000496432.1:n.*353C>T | |
| ENST00000645832.1:c.*835C>T | ENSP00000494316.1:n.*835C>T | |
| ENST00000646058.1:c.950C>T | ENSP00000493579.1:p.Thr317Met | |
| ENST00000646355.1:c.*956C>T | ENSP00000493801.1:n.*956C>T | |
| ENST00000646554.1:c.*928C>T | ENSP00000494542.1:n.*928C>T | |
| ENST00000647335.1:c.*917C>T | ENSP00000495180.1:n.*917C>T | |
| ENST00000647342.1:c.*881C>T | ENSP00000494992.1:n.*881C>T | |
| ENST00000256216.10:c.950C>T | ENSP00000256216.6:p.Thr317Met | |
| ENST00000414835.6:c.530C>T | ENSP00000411960.2:p.Thr177Met | |
| ENST00000442060.7:c.950C>T | ENSP00000390208.3:p.Thr317Met | |
| ENST00000504811.5:c.1025C>T | ENSP00000420914.1:p.Thr342Met | |
| ENST00000509514.5:c.164C>T | ENSP00000426272.1:p.Thr55Met | |
| ENST00000510025.5:c.878C>T | ENSP00000424940.1:p.Thr293Met | |
| ENST00000512029.1:n.69C>T | ||
| ENST00000513628.5:c.539C>T | ENSP00000425993.1:p.Thr180Met | |
| ENST00000515235.6:n.2703C>T | ||
| ENST00000515320.5:c.896C>T | ENSP00000424613.1:p.Thr299Met | |
| ENST00000518349.5:n.84C>T | ||
| ENST00000520216.5:n.211C>T | ||
| NM_000414.3:c.950C>T | NP_000405.1:p.Thr317Met | |
| NM_001199291.2:c.1025C>T | NP_001186220.1:p.Thr342Met | |
| NM_001199292.1:c.896C>T | NP_001186221.1:p.Thr299Met | |
| NM_001292027.1:c.878C>T | NP_001278956.1:p.Thr293Met | |
| NM_001292028.1:c.530C>T | NP_001278957.1:p.Thr177Met | |
| NM_000414.4:c.950C>T MANE Select | NP_000405.1:p.Thr317Met | |
| NM_001199291.3:c.1025C>T | NP_001186220.1:p.Thr342Met | |
| NM_001199292.2:c.896C>T | NP_001186221.1:p.Thr299Met | |
| NM_001292027.2:c.878C>T | NP_001278956.1:p.Thr293Met | |
| NM_001292028.2:c.530C>T | NP_001278957.1:p.Thr177Met | |
| NM_001374497.1:c.941C>T | NP_001361426.1:p.Thr314Met | |
| NM_001374498.1:c.950C>T | NP_001361427.1:p.Thr317Met | |
| NM_001374499.1:c.623C>T | NP_001361428.1:p.Thr208Met | |
| NM_001374500.1:c.509C>T | NP_001361429.1:p.Thr170Met | |
| NM_001374501.1:c.539C>T | NP_001361430.1:p.Thr180Met | |
| NM_001374502.1:c.539C>T | NP_001361431.1:p.Thr180Met | |
| NM_001374503.1:c.539C>T | NP_001361432.1:p.Thr180Met | |
| NR_164653.1:n.1047C>T | ||
| NR_164654.1:n.1315C>T |