Linked Data
ClinVar Variation Id:
189516
ClinVar RCV Id:
RCV000169902
dbSNP Id:
rs786204950
PubMed:
PMID:17097056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236757607G>C , CM000663.2:g.236757607G>C | GRCh38 |
| NC_000001.10:g.236920907G>C , CM000663.1:g.236920907G>C | GRCh37 |
| NC_000001.9:g.234987530G>C | NCBI36 |
| NG_009081.1:g.76138G>C | |
| NG_009081.2:g.98467G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542672.7:c.2276G>C | ENSP00000443495.1:p.Arg759Thr | |
| ENST00000461367.2:n.572G>C | ||
| ENST00000492634.7:n.2206G>C | ||
| ENST00000682015.1:c.2183G>C | ENSP00000506961.1:p.Arg728Thr | |
| ENST00000682490.1:n.194G>C | ||
| ENST00000682692.1:n.3371G>C | ||
| ENST00000682966.1:n.7917G>C | ||
| ENST00000683111.1:c.*1562G>C | ENSP00000507913.1:n.*1562G>C | |
| ENST00000683322.1:n.3628G>C | ||
| ENST00000683805.1:n.1067G>C | ||
| ENST00000684050.1:n.4914G>C | ||
| ENST00000684122.1:n.423G>C | ||
| ENST00000684286.1:n.3831G>C | ||
| ENST00000684502.1:n.3573G>C | ||
| ENST00000684763.1:n.891G>C | ||
| ENST00000366578.6:c.2276G>C MANE Select | ENSP00000355537.4:p.Arg759Thr | |
| ENST00000492634.6:n.2206G>C | ||
| ENST00000542672.6:c.2276G>C | ENSP00000443495.1:p.Arg759Thr | |
| ENST00000651091.1:c.1966G>C | ENSP00000498677.1:n.1966G>C | |
| ENST00000651275.1:c.2168G>C | ENSP00000498926.1:p.Arg723Thr | |
| ENST00000651781.1:c.1356G>C | ||
| ENST00000651786.1:c.*1648G>C | ENSP00000498364.1:n.*1648G>C | |
| ENST00000652096.1:c.*1681G>C | ENSP00000498896.1:n.*1681G>C | |
| ENST00000366578.5:c.2276G>C | ENSP00000355537.4:p.Arg759Thr | |
| ENST00000461367.1:n.485G>C | ||
| ENST00000542672.5:c.2276G>C | ENSP00000443495.1:p.Arg759Thr | |
| ENST00000546208.5:c.1652G>C | ENSP00000438384.2:p.Arg551Thr | |
| NM_001103.3:c.2276G>C | NP_001094.1:p.Arg759Thr | |
| NM_001278343.1:c.2276G>C | NP_001265272.1:p.Arg759Thr | |
| NM_001278344.1:c.1652G>C | NP_001265273.1:p.Arg551Thr | |
| NM_001278343.2:c.2276G>C | NP_001265272.1:p.Arg759Thr | |
| NM_001103.4:c.2276G>C MANE Select | NP_001094.1:p.Arg759Thr | |
| NM_001278344.2:c.1652G>C | NP_001265273.1:p.Arg551Thr |