Linked Data
ClinVar Variation Id:
1298
ClinVar RCV Id:
RCV000001361
dbSNP Id:
rs118203988
PubMed:
PMID:16804542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178453570C>T , CM000664.2:g.178453570C>T | GRCh38 |
| NC_000002.11:g.179318297C>T , CM000664.1:g.179318297C>T | GRCh37 |
| NC_000002.10:g.179026543C>T | NCBI36 |
| NG_009053.1:g.2662G>A | |
| NG_012186.1:g.7135C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642192.1:c.-317C>T | ENSP00000494225.1:n.-317C>T | |
| ENST00000642492.1:c.-418C>T | ENSP00000496267.1:n.-418C>T | |
| ENST00000643738.1:c.-317C>T | ENSP00000493684.1:n.-317C>T | |
| ENST00000644554.1:c.-317C>T | ENSP00000495037.1:n.-317C>T | |
| ENST00000644580.2:c.161C>T MANE Select | ENSP00000495855.2:p.Thr54Ile | |
| ENST00000645572.1:c.161C>T | ENSP00000494301.1:p.Thr54Ile | |
| ENST00000645762.1:n.275C>T | ||
| ENST00000645817.1:c.-317C>T | ENSP00000495731.1:n.-317C>T | |
| ENST00000647226.1:c.-317C>T | ENSP00000496024.1:n.-317C>T | |
| ENST00000375129.8:c.161C>T | ENSP00000364271.4:p.Thr54Ile | |
| ENST00000409117.7:c.161C>T | ENSP00000386647.3:p.Thr54Ile | |
| ENST00000437056.5:n.320C>T | ||
| ENST00000442710.5:c.3C>T | ||
| NM_001042702.3:c.161C>T | NP_001036167.1:p.Thr54Ile | |
| XM_005246627.1:c.170C>T | XP_005246684.1:p.Thr57Ile | |
| XM_005246628.2:c.266C>T | XP_005246685.1:p.Thr89Ile | |
| XM_005246629.2:c.152C>T | XP_005246686.1:p.Thr51Ile | |
| XM_011511247.1:c.266C>T | XP_011509549.1:p.Thr89Ile | |
| XM_011511248.1:c.230C>T | XP_011509550.1:p.Thr77Ile | |
| XM_011511249.1:c.-266-762C>T | XP_011509551.1:n.-266-762C>T | |
| XM_011511250.1:c.-317C>T | XP_011509552.1:n.-317C>T | |
| XM_011511251.1:c.-266-762C>T | XP_011509553.1:n.-266-762C>T | |
| XR_922929.1:n.933C>T | ||
| NM_001042702.4:c.161C>T | NP_001036167.1:p.Thr54Ile | |
| NM_001353775.1:c.170C>T | NP_001340704.1:p.Thr57Ile | |
| NM_001353776.1:c.266C>T | NP_001340705.1:p.Thr89Ile | |
| NM_001353777.1:c.-317C>T | NP_001340706.1:n.-317C>T | |
| NM_001353778.1:c.-317C>T | NP_001340707.1:n.-317C>T | |
| XM_005246629.4:c.152C>T | XP_005246686.1:p.Thr51Ile | |
| XM_011511247.3:c.266C>T | XP_011509549.1:p.Thr89Ile | |
| XM_011511249.3:c.-266-762C>T | XP_011509551.1:n.-266-762C>T | |
| XM_017004221.2:c.266C>T | XP_016859710.1:p.Thr89Ile | |
| XM_017004224.2:c.-1028C>T | XP_016859713.1:n.-1028C>T | |
| XM_024452927.1:c.-418C>T | XP_024308695.1:n.-418C>T | |
| XM_024452928.1:c.-317C>T | XP_024308696.1:n.-317C>T | |
| XR_001738753.2:n.1973C>T | ||
| XR_002959300.1:n.1973C>T | ||
| XR_922929.3:n.456C>T | ||
| NM_001042702.5:c.161C>T MANE Select | NP_001036167.1:p.Thr54Ile | |
| NM_001369912.1:c.161C>T | NP_001356841.1:p.Thr54Ile | |
| NM_001353775.2:c.170C>T | NP_001340704.1:p.Thr57Ile | |
| NM_001353776.2:c.266C>T | NP_001340705.1:p.Thr89Ile | |
| NM_001353778.2:c.-317C>T | NP_001340707.1:n.-317C>T |