Linked Data
ClinVar Variation Id:
55175
ClinVar RCV Id:
RCV000577445
dbSNP Id:
rs80357354
PubMed:
PMID:21965345
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082418C>G , CM000679.2:g.43082418C>G | GRCh38 |
| NC_000017.10:g.41234435C>G , CM000679.1:g.41234435C>G | GRCh37 |
| NC_000017.9:g.38487961C>G | NCBI36 |
| NG_005905.2:g.135566G>C , LRG_292:g.135566G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4343G>C | ENSP00000417241.2:p.Ser1448Thr | |
| ENST00000470026.6:c.4343G>C | ENSP00000419274.2:p.Ser1448Thr | |
| ENST00000473961.6:c.4217G>C | ENSP00000420201.2:p.Ser1406Thr | |
| ENST00000476777.6:c.4337G>C | ENSP00000417554.2:p.Ser1446Thr | |
| ENST00000477152.6:c.4265G>C | ENSP00000419988.2:p.Ser1422Thr | |
| ENST00000478531.6:c.1031G>C | ENSP00000420412.2:p.Ser344Thr | |
| ENST00000489037.2:c.4265G>C | ENSP00000420781.2:p.Ser1422Thr | |
| ENST00000493919.6:c.893G>C | ENSP00000418819.2:p.Ser298Thr | |
| ENST00000494123.6:c.4343G>C | ENSP00000419103.2:p.Ser1448Thr | |
| ENST00000497488.2:c.3455G>C | ENSP00000418986.2:p.Ser1152Thr | |
| ENST00000618469.2:c.4343G>C | ENSP00000478114.2:p.Ser1448Thr | |
| ENST00000634433.2:c.4220G>C | ENSP00000489431.2:p.Ser1407Thr | |
| ENST00000644379.2:c.4343G>C | ENSP00000496570.2:p.Ser1448Thr | |
| ENST00000644555.2:c.893G>C | ENSP00000494614.2:p.Ser298Thr | |
| ENST00000652672.2:c.4202G>C | ENSP00000498906.2:p.Ser1401Thr | |
| ENST00000484087.6:c.908G>C | ENSP00000419481.2:p.Ser303Thr | |
| ENST00000700182.1:c.953G>C | ENSP00000514849.1:p.Ser318Thr | |
| ENST00000357654.9:c.4343G>C MANE Select | ENSP00000350283.3:p.Ser1448Thr | |
| ENST00000471181.7:c.4343G>C | ENSP00000418960.2:p.Ser1448Thr | |
| ENST00000644379.1:c.664G>C | ||
| ENST00000352993.7:c.917G>C | ENSP00000312236.5:p.Ser306Thr | |
| ENST00000357654.7:c.4343G>C | ENSP00000350283.3:p.Ser1448Thr | |
| ENST00000461221.5:c.*4126G>C | ENSP00000418548.1:n.*4126G>C | |
| ENST00000461574.1:c.637G>C | ||
| ENST00000468300.5:c.1034G>C | ENSP00000417148.1:p.Ser345Thr | |
| ENST00000471181.6:c.4343G>C | ENSP00000418960.2:p.Ser1448Thr | |
| ENST00000478531.5:c.1031G>C | ENSP00000420412.1:p.Ser344Thr | |
| ENST00000484087.5:c.656G>C | ENSP00000419481.1:p.Ser219Thr | |
| ENST00000487825.5:c.659G>C | ENSP00000418212.1:p.Ser220Thr | |
| ENST00000491747.6:c.1034G>C | ENSP00000420705.2:p.Ser345Thr | |
| ENST00000493795.5:c.4202G>C | ENSP00000418775.1:p.Ser1401Thr | |
| ENST00000493919.5:c.893G>C | ENSP00000418819.1:p.Ser298Thr | |
| ENST00000586385.5:c.5-18467G>C | ENSP00000465818.1:n.5-18467G>C | |
| ENST00000591534.5:c.-43-7897G>C | ENSP00000467329.1:n.-43-7897G>C | |
| ENST00000591849.5:c.-98-32228G>C | ENSP00000465347.1:n.-98-32228G>C | |
| ENST00000621897.1:n.237G>C | ||
| NM_007294.3:c.4343G>C , LRG_292t1:c.4343G>C | NP_009225.1:p.Ser1448Thr | |
| NM_007297.3:c.4202G>C | NP_009228.2:p.Ser1401Thr | |
| NM_007298.3:c.1034G>C | NP_009229.2:p.Ser345Thr | |
| NM_007299.3:c.1034G>C | NP_009230.2:p.Ser345Thr | |
| NM_007300.3:c.4343G>C | NP_009231.2:p.Ser1448Thr | |
| NR_027676.1:n.4479G>C | ||
| NM_007294.4:c.4343G>C MANE Select | NP_009225.1:p.Ser1448Thr | |
| NM_007297.4:c.4202G>C | NP_009228.2:p.Ser1401Thr | |
| NM_007299.4:c.1034G>C | NP_009230.2:p.Ser345Thr | |
| NM_007300.4:c.4343G>C | NP_009231.2:p.Ser1448Thr | |
| NR_027676.2:n.4520G>C |