Linked Data
ClinVar Variation Id:
474959
dbSNP Id:
rs191821211
ExAC:
1:243652397 G / A
gnomAD v2:
1-243652397-G-A
gnomAD v3:
1-243489095-G-A
gnomAD v4:
1-243489095-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243489095G>A , CM000663.2:g.243489095G>A | GRCh38 |
| NC_000001.10:g.243652397G>A , CM000663.1:g.243652397G>A | GRCh37 |
| NC_000001.9:g.241719020G>A | NCBI36 |
| NG_027811.1:g.238091G>A | |
| NG_029764.1:g.359490C>T | |
| NG_029764.2:g.366985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.2067G>A (SDCCAG8) MANE Select | ENSP00000355499.3:p.Leu689= | |
| ENST00000336199.9:c.*7-645C>T (AKT3) | ENSP00000336943.5:n.*7-645C>T | |
| ENST00000366541.7:c.2067G>A (SDCCAG8) | ENSP00000355499.3:p.Leu689= | |
| ENST00000435549.1:c.1170G>A (SDCCAG8) | ENSP00000410200.1:p.Leu390= | |
| ENST00000497459.1:n.146G>A (SDCCAG8) | ||
| NM_006642.3:c.2067G>A (SDCCAG8) | NP_006633.1:p.Leu689= | |
| NM_181690.2:c.*7-645C>T (AKT3) | NP_859029.1:n.*7-645C>T | |
| XM_005273013.3:c.1938G>A (SDCCAG8) | XP_005273070.1:p.Leu646= | |
| XM_005273018.1:c.1644G>A (SDCCAG8) | XP_005273075.1:p.Leu548= | |
| XM_005273021.3:c.1164G>A (SDCCAG8) | XP_005273078.1:p.Leu388= | |
| XM_005273022.2:c.1146G>A (SDCCAG8) | XP_005273079.1:p.Leu382= | |
| XM_006711727.2:c.2097G>A (SDCCAG8) | XP_006711790.1:p.Leu699= | |
| XM_006711728.2:c.1968G>A (SDCCAG8) | XP_006711791.1:p.Leu656= | |
| XM_006711729.2:c.1908G>A (SDCCAG8) | XP_006711792.1:p.Leu636= | |
| XM_011544021.1:c.2193G>A (SDCCAG8) | XP_011542323.1:p.Leu731= | |
| XM_011544022.1:c.2163G>A (SDCCAG8) | XP_011542324.1:p.Leu721= | |
| XM_011544024.1:c.2112-10661G>A (SDCCAG8) | XP_011542326.1:n.2112-10661G>A | |
| XM_011544025.1:c.2004G>A (SDCCAG8) | XP_011542327.1:p.Leu668= | |
| XM_011544026.1:c.1956G>A (SDCCAG8) | XP_011542328.1:p.Leu652= | |
| XM_011544027.1:c.1779G>A (SDCCAG8) | XP_011542329.1:p.Leu593= | |
| XM_011544028.1:c.1731G>A (SDCCAG8) | XP_011542330.1:p.Leu577= | |
| XM_011544030.1:c.1122G>A (SDCCAG8) | XP_011542332.1:p.Leu374= | |
| NM_001350246.1:c.1164G>A (SDCCAG8) | NP_001337175.1:p.Leu388= | |
| NM_001350247.1:c.1164G>A (SDCCAG8) | NP_001337176.1:p.Leu388= | |
| NM_001350248.1:c.2163G>A (SDCCAG8) | NP_001337177.1:p.Leu721= | |
| NM_001350249.1:c.1773G>A (SDCCAG8) | NP_001337178.1:p.Leu591= | |
| NM_001350251.1:c.1164G>A (SDCCAG8) | NP_001337180.1:p.Leu388= | |
| NM_006642.4:c.2067G>A (SDCCAG8) | NP_006633.1:p.Leu689= | |
| XM_005273013.5:c.1938G>A (SDCCAG8) | XP_005273070.1:p.Leu646= | |
| XM_005273018.2:c.1644G>A (SDCCAG8) | XP_005273075.1:p.Leu548= | |
| XM_005273022.4:c.1146G>A (SDCCAG8) | XP_005273079.1:p.Leu382= | |
| XM_011544026.3:c.1956G>A (SDCCAG8) | XP_011542328.1:p.Leu652= | |
| XM_011544028.3:c.1731G>A (SDCCAG8) | XP_011542330.1:p.Leu577= | |
| XM_011544030.3:c.1122G>A (SDCCAG8) | XP_011542332.1:p.Leu374= | |
| XM_017000105.2:c.1830G>A (SDCCAG8) | XP_016855594.1:p.Leu610= | |
| XM_024452537.1:c.1869G>A (SDCCAG8) | XP_024308305.1:p.Leu623= | |
| XM_024452540.1:c.1869G>A (SDCCAG8) | XP_024308308.1:p.Leu623= | |
| XM_024452548.1:c.1869G>A (SDCCAG8) | XP_024308316.1:p.Leu623= | |
| XM_024452549.1:c.1536G>A (SDCCAG8) | XP_024308317.1:p.Leu512= | |
| XR_002958955.1:n.2109G>A (SDCCAG8) | ||
| XR_002958965.1:n.2000G>A (SDCCAG8) | ||
| NM_006642.5:c.2067G>A (SDCCAG8) MANE Select | NP_006633.1:p.Leu689= | |
| NM_001350246.2:c.1164G>A (SDCCAG8) | NP_001337175.1:p.Leu388= | |
| NM_001350247.2:c.1164G>A (SDCCAG8) | NP_001337176.1:p.Leu388= | |
| NM_001350248.2:c.2163G>A (SDCCAG8) | NP_001337177.1:p.Leu721= | |
| NM_001350249.2:c.1773G>A (SDCCAG8) | NP_001337178.1:p.Leu591= | |
| NM_001350251.2:c.1164G>A (SDCCAG8) | NP_001337180.1:p.Leu388= |