Linked Data
ClinVar Variation Id:
91039
ClinVar RCV Id:
RCV000129717
RCV000235177
RCV000172810
RCV000589745
RCV000524397
RCV000760996
RCV001354813
RCV003149751
RCV004528276
dbSNP Id:
rs41295182
ExAC:
2:47710015 T / G
gnomAD v2:
2-47710015-T-G
gnomAD v3:
2-47482876-T-G
gnomAD v4:
2-47482876-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482876T>G , CM000664.2:g.47482876T>G | GRCh38 |
| NC_000002.11:g.47710015T>G , CM000664.1:g.47710015T>G | GRCh37 |
| NC_000002.10:g.47563519T>G | NCBI36 |
| NG_007110.2:g.84753T>G , LRG_218:g.84753T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+2005T>G | ENSP00000495641.2:n.2634+2005T>G | |
| ENST00000233146.7:c.2732T>G MANE Select | ENSP00000233146.2:p.Leu911Arg | |
| ENST00000543555.6:c.2534T>G | ENSP00000442697.1:p.Leu845Arg | |
| ENST00000644092.1:c.*934+2005T>G | ENSP00000496351.1:n.*934+2005T>G | |
| ENST00000644900.1:c.487+2005T>G | ||
| ENST00000645339.1:c.2634+2005T>G | ENSP00000496441.1:n.2634+2005T>G | |
| ENST00000645506.1:c.2634+2005T>G | ENSP00000495455.1:n.2634+2005T>G | |
| ENST00000646415.1:c.2634+2005T>G | ENSP00000495543.1:n.2634+2005T>G | |
| ENST00000233146.6:c.2732T>G | ENSP00000233146.2:p.Leu911Arg | |
| ENST00000406134.5:c.2634+2005T>G | ENSP00000384199.1:n.2634+2005T>G | |
| ENST00000461394.5:n.75+2005T>G | ||
| ENST00000543555.5:c.2534T>G | ENSP00000442697.1:p.Leu845Arg | |
| ENST00000610696.4:c.*1128T>G | ENSP00000483159.1:n.*1128T>G | |
| ENST00000613514.4:c.*1272T>G | ENSP00000484137.1:n.*1272T>G | |
| ENST00000617333.3:c.*1498T>G | ENSP00000482468.1:n.*1498T>G | |
| ENST00000617938.4:c.*1704T>G | ENSP00000481158.1:n.*1704T>G | |
| ENST00000621359.2:c.*298T>G | ENSP00000481416.1:n.*298T>G | |
| NM_000251.2:c.2732T>G , LRG_218t1:c.2732T>G | NP_000242.1:p.Leu911Arg | |
| NM_001258281.1:c.2534T>G | NP_001245210.1:p.Leu845Arg | |
| XM_005264332.2:c.2634+2005T>G | XP_005264389.2:n.2634+2005T>G | |
| XM_011532867.1:c.2634+2005T>G | XP_011531169.1:n.2634+2005T>G | |
| XR_939685.1:n.2706+2005T>G | ||
| XM_005264332.4:c.2634+2005T>G | XP_005264389.2:n.2634+2005T>G | |
| XM_011532867.2:c.2634+2005T>G | XP_011531169.1:n.2634+2005T>G | |
| XR_001738747.2:n.2696+2005T>G | ||
| XR_939685.2:n.2696+2005T>G | ||
| NM_000251.3:c.2732T>G MANE Select | NP_000242.1:p.Leu911Arg |