Linked Data
ClinVar Variation Id:
1927856
ClinVar RCV Id:
RCV002610089
dbSNP Id:
rs147343643
gnomAD v2:
3-183859726-G-A
gnomAD v3:
3-184141938-G-A
gnomAD v4:
3-184141938-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184141938G>A , CM000665.2:g.184141938G>A | GRCh38 |
| NC_000003.11:g.183859726G>A , CM000665.1:g.183859726G>A | GRCh37 |
| NC_000003.10:g.185342420G>A | NCBI36 |
| NG_015826.1:g.11917G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.1193G>A | ||
| ENST00000468748.7:n.1413G>A | ||
| ENST00000484154.2:n.1400G>A | ||
| ENST00000491008.6:n.1918G>A | ||
| ENST00000492226.2:n.1437G>A | ||
| ENST00000492773.6:c.924G>A | ||
| ENST00000647636.1:c.*19G>A | ENSP00000497505.1:n.*19G>A | |
| ENST00000647909.1:c.1194G>A | ENSP00000498164.1:p.Val398= | |
| ENST00000648145.1:c.942G>A | ||
| ENST00000648189.1:c.988G>A | ||
| ENST00000648256.1:c.1142G>A | ENSP00000497356.1:n.1142G>A | |
| ENST00000648314.1:c.*289G>A | ENSP00000496920.1:n.*289G>A | |
| ENST00000648599.1:c.*453G>A | ENSP00000497159.1:n.*453G>A | |
| ENST00000648630.1:c.1049G>A | ENSP00000497887.1:p.Cys350Tyr | |
| ENST00000648682.1:c.*10G>A | ENSP00000498185.1:n.*10G>A | |
| ENST00000648882.1:c.*996G>A | ENSP00000497603.1:n.*996G>A | |
| ENST00000648890.1:c.1170G>A | ENSP00000497503.1:p.Val390= | |
| ENST00000648915.2:c.1170G>A MANE Select | ENSP00000497160.1:p.Val390= | |
| ENST00000649545.1:c.591G>A | ||
| ENST00000649688.1:c.*463G>A | ENSP00000497097.1:n.*463G>A | |
| ENST00000649814.1:n.1219G>A | ||
| ENST00000650270.1:c.1037G>A | ||
| ENST00000273783.7:c.1170G>A | ENSP00000273783.3:p.Val390= | |
| ENST00000432982.5:c.246-299G>A | ||
| ENST00000444495.1:c.1170G>A | ENSP00000409142.1:p.Val390= | |
| ENST00000479833.1:n.371G>A | ||
| ENST00000481054.5:n.1264G>A | ||
| ENST00000491144.5:n.1674G>A | ||
| ENST00000492773.5:n.53G>A | ||
| NM_003907.2:c.1170G>A | NP_003898.2:p.Val390= | |
| XM_011513265.1:c.420G>A | XP_011511567.1:p.Val140= | |
| XM_011513266.1:c.333G>A | XP_011511568.1:p.Val111= | |
| XR_924208.1:n.2121G>A | ||
| NM_003907.3:c.1170G>A MANE Select | NP_003898.2:p.Val390= | |
| XM_011513266.3:c.333G>A | XP_011511568.1:p.Val111= | |
| XR_001740352.2:n.1533G>A | ||
| XR_001740353.2:n.1533G>A | ||
| XR_924208.2:n.1533G>A |