Linked Data
ClinVar Variation Id:
350465
dbSNP Id:
rs200347945
ExAC:
5:118835170 C / T
gnomAD v2:
5-118835170-C-T
gnomAD v3:
5-119499475-C-T
gnomAD v4:
5-119499475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119499475C>T , CM000667.2:g.119499475C>T | GRCh38 |
| NC_000005.9:g.118835170C>T , CM000667.1:g.118835170C>T | GRCh37 |
| NC_000005.8:g.118863069C>T | NCBI36 |
| NG_008182.1:g.52023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.1131C>T | ENSP00000426272.2:p.Phe377= | |
| ENST00000518349.6:c.375C>T | ENSP00000507185.1:p.Phe125= | |
| ENST00000682445.1:c.*1012C>T | ENSP00000508061.1:n.*1012C>T | |
| ENST00000682531.1:n.3023C>T | ||
| ENST00000682626.1:c.*637C>T | ENSP00000507857.1:n.*637C>T | |
| ENST00000682996.1:c.1131C>T | ENSP00000507792.1:p.Phe377= | |
| ENST00000683265.1:n.2917C>T | ||
| ENST00000683371.1:c.*1261C>T | ENSP00000508376.1:n.*1261C>T | |
| ENST00000683372.1:n.3141C>T | ||
| ENST00000683390.1:n.2821C>T | ||
| ENST00000683549.1:n.2745C>T | ||
| ENST00000683936.1:c.*2709C>T | ENSP00000507721.1:n.*2709C>T | |
| ENST00000683974.1:n.2906C>T | ||
| ENST00000683996.1:c.*341C>T | ENSP00000507060.1:n.*341C>T | |
| ENST00000684131.1:n.2663C>T | ||
| ENST00000684160.1:c.*821C>T | ENSP00000507821.1:n.*821C>T | |
| ENST00000684214.1:c.1131C>T | ENSP00000508071.1:p.Phe377= | |
| ENST00000414835.7:c.1206C>T | ENSP00000411960.3:p.Phe402= | |
| ENST00000510025.7:c.1131C>T MANE Select | ENSP00000424940.3:p.Phe377= | |
| ENST00000643250.1:c.*1003C>T | ENSP00000494737.1:n.*1003C>T | |
| ENST00000644146.1:c.*2402C>T | ENSP00000494808.1:n.*2402C>T | |
| ENST00000645099.1:c.690C>T | ENSP00000496091.1:p.Phe230= | |
| ENST00000645702.1:c.*534C>T | ENSP00000496432.1:n.*534C>T | |
| ENST00000645832.1:c.*1016C>T | ENSP00000494316.1:n.*1016C>T | |
| ENST00000646058.1:c.1131C>T | ENSP00000493579.1:p.Phe377= | |
| ENST00000646355.1:c.*1137C>T | ENSP00000493801.1:n.*1137C>T | |
| ENST00000646554.1:c.*1109C>T | ENSP00000494542.1:n.*1109C>T | |
| ENST00000647335.1:c.*1098C>T | ENSP00000495180.1:n.*1098C>T | |
| ENST00000647342.1:c.*1062C>T | ENSP00000494992.1:n.*1062C>T | |
| ENST00000256216.10:c.1131C>T | ENSP00000256216.6:p.Phe377= | |
| ENST00000414835.6:c.711C>T | ENSP00000411960.2:p.Phe237= | |
| ENST00000442060.7:c.1131C>T | ENSP00000390208.3:p.Phe377= | |
| ENST00000504811.5:c.1206C>T | ENSP00000420914.1:p.Phe402= | |
| ENST00000509514.5:c.345C>T | ENSP00000426272.1:p.Phe115= | |
| ENST00000510025.5:c.1059C>T | ENSP00000424940.1:p.Phe353= | |
| ENST00000512029.1:n.250C>T | ||
| ENST00000513628.5:c.720C>T | ENSP00000425993.1:p.Phe240= | |
| ENST00000515235.6:n.2884C>T | ||
| ENST00000515320.5:c.1077C>T | ENSP00000424613.1:p.Phe359= | |
| ENST00000518349.5:n.265C>T | ||
| ENST00000520216.5:n.392C>T | ||
| NM_000414.3:c.1131C>T | NP_000405.1:p.Phe377= | |
| NM_001199291.2:c.1206C>T | NP_001186220.1:p.Phe402= | |
| NM_001199292.1:c.1077C>T | NP_001186221.1:p.Phe359= | |
| NM_001292027.1:c.1059C>T | NP_001278956.1:p.Phe353= | |
| NM_001292028.1:c.711C>T | NP_001278957.1:p.Phe237= | |
| NM_000414.4:c.1131C>T MANE Select | NP_000405.1:p.Phe377= | |
| NM_001199291.3:c.1206C>T | NP_001186220.1:p.Phe402= | |
| NM_001199292.2:c.1077C>T | NP_001186221.1:p.Phe359= | |
| NM_001292027.2:c.1059C>T | NP_001278956.1:p.Phe353= | |
| NM_001292028.2:c.711C>T | NP_001278957.1:p.Phe237= | |
| NM_001374497.1:c.1122C>T | NP_001361426.1:p.Phe374= | |
| NM_001374498.1:c.1131C>T | NP_001361427.1:p.Phe377= | |
| NM_001374499.1:c.804C>T | NP_001361428.1:p.Phe268= | |
| NM_001374500.1:c.690C>T | NP_001361429.1:p.Phe230= | |
| NM_001374501.1:c.720C>T | NP_001361430.1:p.Phe240= | |
| NM_001374502.1:c.720C>T | NP_001361431.1:p.Phe240= | |
| NM_001374503.1:c.720C>T | NP_001361432.1:p.Phe240= | |
| NR_164653.1:n.1228C>T | ||
| NR_164654.1:n.1496C>T |