Linked Data
ClinVar Variation Id:
447713
ClinVar RCV Id:
RCV000516806
dbSNP Id:
rs370952608
ExAC:
18:48442554 A / G
gnomAD v2:
18-48442554-A-G
gnomAD v3:
18-50916184-A-G
gnomAD v4:
18-50916184-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50916184A>G , CM000680.2:g.50916184A>G | GRCh38 |
| NC_000018.9:g.48442554A>G , CM000680.1:g.48442554A>G | GRCh37 |
| NC_000018.8:g.46696552A>G | NCBI36 |
| NG_016198.1:g.42123A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321341.11:c.409A>G MANE Select | ENSP00000321070.5:p.Ile137Val | |
| ENST00000585680.2:c.159-1163A>G | ENSP00000491793.1:n.159-1163A>G | |
| ENST00000589330.2:n.286A>G | ||
| ENST00000638410.1:c.409A>G | ENSP00000492272.1:p.Ile137Val | |
| ENST00000638937.1:c.409A>G | ENSP00000492393.1:p.Ile137Val | |
| ENST00000639115.1:c.393-1163A>G | ENSP00000492733.1:n.393-1163A>G | |
| ENST00000639255.1:c.409A>G | ENSP00000492085.1:p.Ile137Val | |
| ENST00000639398.1:c.243-1926A>G | ENSP00000492309.1:n.243-1926A>G | |
| ENST00000639612.1:c.389-1926A>G | ||
| ENST00000639663.1:n.793A>G | ||
| ENST00000639665.1:c.298A>G | ENSP00000491520.1:p.Ile100Val | |
| ENST00000639688.1:c.393-1163A>G | ENSP00000492377.1:n.393-1163A>G | |
| ENST00000639850.1:c.409A>G | ENSP00000491152.1:p.Ile137Val | |
| ENST00000640530.1:c.393-1926A>G | ENSP00000491724.1:n.393-1926A>G | |
| ENST00000640965.1:c.298A>G | ENSP00000491954.1:p.Ile100Val | |
| ENST00000640967.1:c.409A>G | ENSP00000492067.1:p.Ile137Val | |
| ENST00000321341.9:c.409A>G | ENSP00000321070.5:p.Ile137Val | |
| ENST00000382927.3:c.409A>G | ENSP00000372384.2:p.Ile137Val | |
| NM_001168335.1:c.409A>G | NP_001161807.1:p.Ile137Val | |
| NM_002396.4:c.409A>G | NP_002387.1:p.Ile137Val | |
| XR_935223.1:n.1126A>G | ||
| XR_935223.2:n.1028A>G | ||
| NM_002396.5:c.409A>G MANE Select | NP_002387.1:p.Ile137Val | |
| NM_001168335.2:c.409A>G | NP_001161807.1:p.Ile137Val | |
| NR_174094.1:n.612A>G |