Linked Data
ClinVar Variation Id:
94060
ClinVar RCV Id:
RCV000598346
dbSNP Id:
rs142847061
ExAC:
18:48458717 T / A
gnomAD v2:
18-48458717-T-A
gnomAD v3:
18-50932347-T-A
gnomAD v4:
18-50932347-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50932347T>A , CM000680.2:g.50932347T>A | GRCh38 |
| NC_000018.9:g.48458717T>A , CM000680.1:g.48458717T>A | GRCh37 |
| NC_000018.8:g.46712715T>A | NCBI36 |
| NG_016198.1:g.58286T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321341.11:c.1404T>A MANE Select | ENSP00000321070.5:p.Val468= | |
| ENST00000585680.2:c.1094T>A | ENSP00000491793.1:n.1094T>A | |
| ENST00000589330.2:n.2384T>A | ||
| ENST00000638410.1:c.1404T>A | ENSP00000492272.1:p.Val468= | |
| ENST00000638937.1:c.1404T>A | ENSP00000492393.1:p.Val468= | |
| ENST00000639115.1:c.*926T>A | ENSP00000492733.1:n.*926T>A | |
| ENST00000639255.1:c.1242T>A | ENSP00000492085.1:p.Val414= | |
| ENST00000639398.1:c.*764T>A | ENSP00000492309.1:n.*764T>A | |
| ENST00000639612.1:c.1162T>A | ||
| ENST00000639663.1:n.1788T>A | ||
| ENST00000639665.1:c.1293T>A | ENSP00000491520.1:p.Val431= | |
| ENST00000639688.1:c.*926T>A | ENSP00000492377.1:n.*926T>A | |
| ENST00000639850.1:c.1290T>A | ENSP00000491152.1:p.Val430= | |
| ENST00000640530.1:c.*764T>A | ENSP00000491724.1:n.*764T>A | |
| ENST00000640965.1:c.1293T>A | ENSP00000491954.1:p.Val431= | |
| ENST00000640967.1:c.1404T>A | ENSP00000492067.1:p.Val468= | |
| ENST00000321341.9:c.1404T>A | ENSP00000321070.5:p.Val468= | |
| ENST00000382927.3:c.1404T>A | ENSP00000372384.2:p.Val468= | |
| ENST00000585680.1:n.129T>A | ||
| NM_001168335.1:c.1404T>A | NP_001161807.1:p.Val468= | |
| NM_002396.4:c.1404T>A | NP_002387.1:p.Val468= | |
| XR_935223.1:n.2121T>A | ||
| XR_935223.2:n.2023T>A | ||
| NM_002396.5:c.1404T>A MANE Select | NP_002387.1:p.Val468= | |
| NM_001168335.2:c.1404T>A | NP_001161807.1:p.Val468= | |
| NR_174094.1:n.1607T>A |