Linked Data
ClinVar Variation Id:
436676
ClinVar RCV Id:
RCV000504492
RCV000704873
RCV001095982
RCV001095981
RCV001700134
RCV002294338
RCV004535620
dbSNP Id:
rs201869920
ExAC:
1:243471328 C / G
gnomAD v2:
1-243471328-C-G
gnomAD v3:
1-243308026-C-G
gnomAD v4:
1-243308026-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243308026C>G , CM000663.2:g.243308026C>G | GRCh38 |
| NC_000001.10:g.243471328C>G , CM000663.1:g.243471328C>G | GRCh37 |
| NC_000001.9:g.241537951C>G | NCBI36 |
| NG_027811.1:g.57022C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.778C>G MANE Select | ENSP00000355499.3:p.Leu260Val | |
| ENST00000366541.7:c.778C>G | ENSP00000355499.3:p.Leu260Val | |
| ENST00000435549.1:c.118C>G | ENSP00000410200.1:p.Leu40Val | |
| ENST00000463012.1:n.138C>G | ||
| NM_006642.3:c.778C>G | NP_006633.1:p.Leu260Val | |
| XM_005273013.3:c.649C>G | XP_005273070.1:p.Leu217Val | |
| XM_005273018.1:c.355C>G | XP_005273075.1:p.Leu119Val | |
| XM_005273021.3:c.-126C>G | XP_005273078.1:n.-126C>G | |
| XM_005273022.2:c.9-8729C>G | XP_005273079.1:n.9-8729C>G | |
| XM_005273023.3:c.778C>G | XP_005273080.1:p.Leu260Val | |
| XM_006711727.2:c.808C>G | XP_006711790.1:p.Leu270Val | |
| XM_006711728.2:c.679C>G | XP_006711791.1:p.Leu227Val | |
| XM_006711729.2:c.770+3249C>G | XP_006711792.1:n.770+3249C>G | |
| XM_011544021.1:c.904C>G | XP_011542323.1:p.Leu302Val | |
| XM_011544022.1:c.874C>G | XP_011542324.1:p.Leu292Val | |
| XM_011544023.1:c.904C>G | XP_011542325.1:p.Leu302Val | |
| XM_011544024.1:c.904C>G | XP_011542326.1:p.Leu302Val | |
| XM_011544025.1:c.866+3249C>G | XP_011542327.1:n.866+3249C>G | |
| XM_011544026.1:c.904C>G | XP_011542328.1:p.Leu302Val | |
| XM_011544027.1:c.641+3249C>G | XP_011542329.1:n.641+3249C>G | |
| XM_011544028.1:c.679C>G | XP_011542330.1:p.Leu227Val | |
| XM_011544029.1:c.904C>G | XP_011542331.1:p.Leu302Val | |
| XR_949128.1:n.928C>G | ||
| NM_001350246.1:c.-126C>G | NP_001337175.1:n.-126C>G | |
| NM_001350247.1:c.-126C>G | NP_001337176.1:n.-126C>G | |
| NM_001350248.1:c.874C>G | NP_001337177.1:p.Leu292Val | |
| NM_001350249.1:c.484C>G | NP_001337178.1:p.Leu162Val | |
| NM_001350251.1:c.-126C>G | NP_001337180.1:n.-126C>G | |
| NM_006642.4:c.778C>G | NP_006633.1:p.Leu260Val | |
| XM_005273013.5:c.649C>G | XP_005273070.1:p.Leu217Val | |
| XM_005273018.2:c.355C>G | XP_005273075.1:p.Leu119Val | |
| XM_005273022.4:c.9-8729C>G | XP_005273079.1:n.9-8729C>G | |
| XM_005273023.5:c.778C>G | XP_005273080.1:p.Leu260Val | |
| XM_011544026.3:c.904C>G | XP_011542328.1:p.Leu302Val | |
| XM_011544028.3:c.679C>G | XP_011542330.1:p.Leu227Val | |
| XM_017000104.2:c.649C>G | XP_016855593.1:p.Leu217Val | |
| XM_017000105.2:c.778C>G | XP_016855594.1:p.Leu260Val | |
| XM_024452537.1:c.580C>G | XP_024308305.1:p.Leu194Val | |
| XM_024452539.1:c.580C>G | XP_024308307.1:p.Leu194Val | |
| XM_024452540.1:c.580C>G | XP_024308308.1:p.Leu194Val | |
| XM_024452547.1:c.484C>G | XP_024308315.1:p.Leu162Val | |
| XM_024452548.1:c.580C>G | XP_024308316.1:p.Leu194Val | |
| XM_024452549.1:c.484C>G | XP_024308317.1:p.Leu162Val | |
| XR_002958955.1:n.820C>G | ||
| XR_002958956.1:n.820C>G | ||
| XR_002958965.1:n.820C>G | ||
| NM_006642.5:c.778C>G MANE Select | NP_006633.1:p.Leu260Val | |
| NM_001350246.2:c.-126C>G | NP_001337175.1:n.-126C>G | |
| NM_001350247.2:c.-126C>G | NP_001337176.1:n.-126C>G | |
| NM_001350248.2:c.874C>G | NP_001337177.1:p.Leu292Val | |
| NM_001350249.2:c.484C>G | NP_001337178.1:p.Leu162Val | |
| NM_001350251.2:c.-126C>G | NP_001337180.1:n.-126C>G |