Linked Data
ClinVar Variation Id:
161300
ClinVar RCV Id:
RCV000148638
RCV000411526
RCV000491584
RCV000471467
RCV000588732
RCV001175338
RCV004532667
dbSNP Id:
rs2229061
ExAC:
2:47703703 A / G
gnomAD v2:
2-47703703-A-G
gnomAD v3:
2-47476564-A-G
gnomAD v4:
2-47476564-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47476564A>G , CM000664.2:g.47476564A>G | GRCh38 |
| NC_000002.11:g.47703703A>G , CM000664.1:g.47703703A>G | GRCh37 |
| NC_000002.10:g.47557207A>G | NCBI36 |
| NG_007110.2:g.78441A>G , LRG_218:g.78441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2203A>G | ENSP00000495641.2:p.Ile735Val | |
| ENST00000233146.7:c.2203A>G MANE Select | ENSP00000233146.2:p.Ile735Val | |
| ENST00000543555.6:c.2005A>G | ENSP00000442697.1:p.Ile669Val | |
| ENST00000644092.1:c.*503A>G | ENSP00000496351.1:n.*503A>G | |
| ENST00000644900.1:c.56A>G | ||
| ENST00000645339.1:c.2203A>G | ENSP00000496441.1:p.Ile735Val | |
| ENST00000645506.1:c.2203A>G | ENSP00000495455.1:p.Ile735Val | |
| ENST00000646415.1:c.2203A>G | ENSP00000495543.1:p.Ile735Val | |
| ENST00000233146.6:c.2203A>G | ENSP00000233146.2:p.Ile735Val | |
| ENST00000406134.5:c.2203A>G | ENSP00000384199.1:p.Ile735Val | |
| ENST00000543555.5:c.2005A>G | ENSP00000442697.1:p.Ile669Val | |
| ENST00000610696.4:c.*599A>G | ENSP00000483159.1:n.*599A>G | |
| ENST00000613514.4:c.*743A>G | ENSP00000484137.1:n.*743A>G | |
| ENST00000617333.3:c.*969A>G | ENSP00000482468.1:n.*969A>G | |
| ENST00000617938.4:c.*1175A>G | ENSP00000481158.1:n.*1175A>G | |
| ENST00000621359.2:c.2203A>G | ENSP00000481416.1:p.Ile735Val | |
| NM_000251.2:c.2203A>G , LRG_218t1:c.2203A>G | NP_000242.1:p.Ile735Val | |
| NM_001258281.1:c.2005A>G | NP_001245210.1:p.Ile669Val | |
| XM_005264332.2:c.2203A>G | XP_005264389.2:p.Ile735Val | |
| XM_011532867.1:c.2203A>G | XP_011531169.1:p.Ile735Val | |
| XR_939685.1:n.2275A>G | ||
| XM_005264332.4:c.2203A>G | XP_005264389.2:p.Ile735Val | |
| XM_011532867.2:c.2203A>G | XP_011531169.1:p.Ile735Val | |
| XR_001738747.2:n.2265A>G | ||
| XR_939685.2:n.2265A>G | ||
| NM_000251.3:c.2203A>G MANE Select | NP_000242.1:p.Ile735Val |