Linked Data
ClinVar Variation Id:
294331
ClinVar RCV Id:
RCV000287604
dbSNP Id:
rs41317509
gnomAD v2:
1-186159947-A-G
gnomAD v3:
1-186190815-A-G
gnomAD v4:
1-186190815-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186190815A>G , CM000663.2:g.186190815A>G | GRCh38 |
| NC_000001.10:g.186159947A>G , CM000663.1:g.186159947A>G | GRCh37 |
| NC_000001.9:g.184426570A>G | NCBI36 |
| NG_011841.1:g.461265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.*937A>G MANE Select | ENSP00000271588.4:n.*937A>G | |
| ENST00000271588.8:c.*937A>G | ENSP00000271588.4:n.*937A>G | |
| NM_031935.2:c.*937A>G | NP_114141.2:n.*937A>G | |
| XM_011510037.1:c.*937A>G | XP_011508339.1:n.*937A>G | |
| XM_011510038.1:c.*937A>G | XP_011508340.1:n.*937A>G | |
| XR_922364.1:n.961-4970T>C | ||
| XR_922365.1:n.961-4970T>C | ||
| XR_922366.1:n.961-4970T>C | ||
| XR_922367.1:n.961-4970T>C | ||
| XM_011510038.3:c.*937A>G | XP_011508340.1:n.*937A>G | |
| XM_017002437.1:c.*937A>G | XP_016857926.1:n.*937A>G | |
| NM_031935.3:c.*937A>G MANE Select | NP_114141.2:n.*937A>G |