Linked Data
ClinVar Variation Id:
2742291
ClinVar RCV Id:
RCV003497596
dbSNP Id:
rs1798891223
gnomAD v4:
7-45068457-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45068457A>G , CM000669.2:g.45068457A>G | GRCh38 |
| NC_000007.13:g.45108056A>G , CM000669.1:g.45108056A>G | GRCh37 |
| NC_000007.12:g.45074581A>G | NCBI36 |
| NG_016295.1:g.73270A>G , LRG_664:g.73270A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.487A>G MANE Select | ENSP00000258781.7:p.Ile163Val | |
| ENST00000648329.1:c.487A>G | ENSP00000496916.1:p.Ile163Val | |
| ENST00000258781.10:c.487A>G | ENSP00000258781.6:p.Ile163Val | |
| ENST00000381112.7:c.550A>G | ENSP00000370503.3:p.Ile184Val | |
| ENST00000461377.5:n.840A>G | ||
| ENST00000472223.5:n.554A>G | ||
| ENST00000474617.1:c.454+3811A>G | ENSP00000419474.1:n.454+3811A>G | |
| ENST00000475551.5:c.469A>G | ENSP00000417180.1:p.Ile157Val | |
| ENST00000477605.1:n.822A>G | ||
| ENST00000478582.5:n.684-1369A>G | ||
| ENST00000480658.5:n.315A>G | ||
| ENST00000481194.1:n.45-1369A>G | ||
| ENST00000482714.5:n.409A>G | ||
| ENST00000488727.5:c.487A>G | ENSP00000417251.1:p.Ile163Val | |
| ENST00000492883.5:n.485-1369A>G | ||
| ENST00000541586.5:c.313A>G | ENSP00000444725.1:p.Ile105Val | |
| ENST00000544363.5:c.472+3811A>G | ENSP00000438035.1:n.472+3811A>G | |
| NM_001029835.2:c.550A>G , LRG_664t1:c.550A>G | NP_001025006.1:p.Ile184Val | |
| NM_001167934.1:c.313A>G | NP_001161406.1:p.Ile105Val | |
| NM_001167935.1:c.472+3811A>G | NP_001161407.1:n.472+3811A>G | |
| NM_031443.3:c.487A>G , LRG_664t2:c.487A>G | NP_113631.1:p.Ile163Val | |
| NR_030770.1:n.569A>G | ||
| XM_006715785.2:c.376A>G | XP_006715848.1:p.Ile126Val | |
| XM_006715786.2:c.535+3811A>G | XP_006715849.1:n.535+3811A>G | |
| XM_011515561.1:c.550A>G | XP_011513863.1:p.Ile184Val | |
| XM_011515562.1:c.487A>G | XP_011513864.1:p.Ile163Val | |
| XM_011515563.1:c.376A>G | XP_011513865.1:p.Ile126Val | |
| XM_011515564.1:c.313A>G | XP_011513866.1:p.Ile105Val | |
| XR_428088.2:n.563A>G | ||
| NM_001363458.1:c.487A>G | NP_001350387.1:p.Ile163Val | |
| NM_001363459.1:c.313A>G | NP_001350388.1:p.Ile105Val | |
| XM_006715785.4:c.376A>G | XP_006715848.1:p.Ile126Val | |
| XM_006715786.3:c.535+3811A>G | XP_006715849.1:n.535+3811A>G | |
| XM_011515561.2:c.550A>G | XP_011513863.1:p.Ile184Val | |
| XM_011515563.3:c.376A>G | XP_011513865.1:p.Ile126Val | |
| XM_017012671.1:c.550A>G | XP_016868160.1:p.Ile184Val | |
| XM_017012672.2:c.376A>G | XP_016868161.1:p.Ile126Val | |
| XM_017012673.1:c.313A>G | XP_016868162.1:p.Ile105Val | |
| XR_428088.3:n.583A>G | ||
| NM_001363458.2:c.487A>G | NP_001350387.1:p.Ile163Val | |
| NM_001363459.2:c.313A>G | NP_001350388.1:p.Ile105Val | |
| NM_031443.4:c.487A>G MANE Select | NP_113631.1:p.Ile163Val | |
| NR_030770.2:n.569A>G | ||
| NM_001167934.2:c.313A>G | NP_001161406.1:p.Ile105Val | |
| NM_001167935.2:c.472+3811A>G | NP_001161407.1:n.472+3811A>G |