Linked Data
ClinVar Variation Id:
296918
dbSNP Id:
rs554190542
gnomAD v3:
1-243499882-G-A
gnomAD v4:
1-243499882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243499882G>A , CM000663.2:g.243499882G>A | GRCh38 |
| NC_000001.10:g.243663184G>A , CM000663.1:g.243663184G>A | GRCh37 |
| NC_000001.9:g.241729807G>A | NCBI36 |
| NG_027811.1:g.248878G>A | |
| NG_029764.1:g.348703C>T | |
| NG_029764.2:g.356198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.*97G>A (SDCCAG8) MANE Select | ENSP00000355499.3:n.*97G>A | |
| ENST00000672460.1:c.2059-96C>T (AKT3) | ENSP00000499842.1:n.2059-96C>T | |
| ENST00000673466.1:c.*5367C>T (AKT3) MANE Select | ENSP00000500582.1:n.*5367C>T | |
| ENST00000679831.1:n.7818C>T (AKT3) | ||
| ENST00000680118.1:c.*902-96C>T (AKT3) | ENSP00000505276.1:n.*902-96C>T | |
| ENST00000263826.9:c.*5367C>T (AKT3) | ENSP00000263826.5:n.*5367C>T | |
| ENST00000336199.9:c.1355-96C>T (AKT3) | ENSP00000336943.5:n.1355-96C>T | |
| ENST00000366540.5:c.1355-96C>T (AKT3) | ENSP00000355498.1:n.1355-96C>T | |
| ENST00000366541.7:c.*97G>A (SDCCAG8) | ENSP00000355499.3:n.*97G>A | |
| ENST00000435549.1:c.1342G>A (SDCCAG8) | ENSP00000410200.1:n.1342G>A | |
| ENST00000497459.1:n.318G>A (SDCCAG8) | ||
| NM_001206729.1:c.1355-96C>T (AKT3) | NP_001193658.1:n.1355-96C>T | |
| NM_005465.4:c.*5367C>T (AKT3) | NP_005456.1:n.*5367C>T | |
| NM_006642.3:c.*97G>A (SDCCAG8) | NP_006633.1:n.*97G>A | |
| NM_181690.2:c.1355-96C>T (AKT3) | NP_859029.1:n.1355-96C>T | |
| XM_005272994.3:c.*5367C>T (AKT3) | XP_005273051.1:n.*5367C>T | |
| XM_005272995.2:c.*5367C>T (AKT3) | XP_005273052.1:n.*5367C>T | |
| XM_005272997.3:c.*5367C>T (AKT3) | XP_005273054.1:n.*5367C>T | |
| XM_005273013.3:c.*97G>A (SDCCAG8) | XP_005273070.1:n.*97G>A | |
| XM_005273018.1:c.*97G>A (SDCCAG8) | XP_005273075.1:n.*97G>A | |
| XM_005273021.3:c.*97G>A (SDCCAG8) | XP_005273078.1:n.*97G>A | |
| XM_005273022.2:c.*97G>A (SDCCAG8) | XP_005273079.1:n.*97G>A | |
| XM_006711727.2:c.*97G>A (SDCCAG8) | XP_006711790.1:n.*97G>A | |
| XM_006711728.2:c.*97G>A (SDCCAG8) | XP_006711791.1:n.*97G>A | |
| XM_006711729.2:c.*97G>A (SDCCAG8) | XP_006711792.1:n.*97G>A | |
| XM_011544011.1:c.*5367C>T (AKT3) | XP_011542313.1:n.*5367C>T | |
| XM_011544014.1:c.*5367C>T (AKT3) | XP_011542316.1:n.*5367C>T | |
| XM_011544021.1:c.*97G>A (SDCCAG8) | XP_011542323.1:n.*97G>A | |
| XM_011544022.1:c.*97G>A (SDCCAG8) | XP_011542324.1:n.*97G>A | |
| XM_011544024.1:c.*78G>A (SDCCAG8) | XP_011542326.1:n.*78G>A | |
| XM_011544025.1:c.*97G>A (SDCCAG8) | XP_011542327.1:n.*97G>A | |
| XM_011544026.1:c.*97G>A (SDCCAG8) | XP_011542328.1:n.*97G>A | |
| XM_011544027.1:c.*97G>A (SDCCAG8) | XP_011542329.1:n.*97G>A | |
| XM_011544028.1:c.*97G>A (SDCCAG8) | XP_011542330.1:n.*97G>A | |
| XM_011544030.1:c.*97G>A (SDCCAG8) | XP_011542332.1:n.*97G>A | |
| NM_001350246.1:c.*97G>A (SDCCAG8) | NP_001337175.1:n.*97G>A | |
| NM_001350247.1:c.*97G>A (SDCCAG8) | NP_001337176.1:n.*97G>A | |
| NM_001350248.1:c.*97G>A (SDCCAG8) | NP_001337177.1:n.*97G>A | |
| NM_001350249.1:c.*97G>A (SDCCAG8) | NP_001337178.1:n.*97G>A | |
| NM_001350251.1:c.*97G>A (SDCCAG8) | NP_001337180.1:n.*97G>A | |
| NM_006642.4:c.*97G>A (SDCCAG8) | NP_006633.1:n.*97G>A | |
| XM_005273013.5:c.*97G>A (SDCCAG8) | XP_005273070.1:n.*97G>A | |
| XM_005273018.2:c.*97G>A (SDCCAG8) | XP_005273075.1:n.*97G>A | |
| XM_005273022.4:c.*97G>A (SDCCAG8) | XP_005273079.1:n.*97G>A | |
| XM_011544026.3:c.*97G>A (SDCCAG8) | XP_011542328.1:n.*97G>A | |
| XM_011544028.3:c.*97G>A (SDCCAG8) | XP_011542330.1:n.*97G>A | |
| XM_011544030.3:c.*97G>A (SDCCAG8) | XP_011542332.1:n.*97G>A | |
| XM_017000105.2:c.*97G>A (SDCCAG8) | XP_016855594.1:n.*97G>A | |
| XM_024452537.1:c.*2010G>A (SDCCAG8) | XP_024308305.1:n.*2010G>A | |
| XM_024452540.1:c.*97G>A (SDCCAG8) | XP_024308308.1:n.*97G>A | |
| XM_024452548.1:c.*97G>A (SDCCAG8) | XP_024308316.1:n.*97G>A | |
| XM_024452549.1:c.*97G>A (SDCCAG8) | XP_024308317.1:n.*97G>A | |
| XR_002958955.1:n.2374G>A (SDCCAG8) | ||
| NM_005465.5:c.*5367C>T (AKT3) | NP_005456.1:n.*5367C>T | |
| NM_006642.5:c.*97G>A (SDCCAG8) MANE Select | NP_006633.1:n.*97G>A | |
| NM_001370074.1:c.*5367C>T (AKT3) | NP_001357003.1:n.*5367C>T | |
| NM_005465.7:c.*5367C>T (AKT3) MANE Select | NP_005456.1:n.*5367C>T | |
| NM_001206729.2:c.1355-96C>T (AKT3) | NP_001193658.1:n.1355-96C>T | |
| NM_001350246.2:c.*97G>A (SDCCAG8) | NP_001337175.1:n.*97G>A | |
| NM_001350247.2:c.*97G>A (SDCCAG8) | NP_001337176.1:n.*97G>A | |
| NM_001350248.2:c.*97G>A (SDCCAG8) | NP_001337177.1:n.*97G>A | |
| NM_001350249.2:c.*97G>A (SDCCAG8) | NP_001337178.1:n.*97G>A | |
| NM_001350251.2:c.*97G>A (SDCCAG8) | NP_001337180.1:n.*97G>A |