Linked Data
ClinVar Variation Id:
402147
ClinVar RCV Id:
RCV000454179
dbSNP Id:
rs1060499743
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.24596030A>C , CM000672.2:g.24596030A>C | GRCh38 |
| NC_000010.10:g.24884959A>C , CM000672.1:g.24884959A>C | GRCh37 |
| NC_000010.9:g.24924965A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376410.7:c.3461T>G | ENSP00000365592.3:p.Ile1154Arg | |
| ENST00000396432.7:c.3491T>G MANE Select | ENSP00000379709.2:p.Ile1164Arg | |
| ENST00000636789.1:c.2852T>G | ENSP00000490396.1:p.Ile951Arg | |
| ENST00000638156.1:c.770T>G | ENSP00000489905.1:p.Ile257Arg | |
| ENST00000680286.1:c.3512T>G | ENSP00000506388.1:p.Ile1171Arg | |
| ENST00000320481.10:c.1838T>G | ENSP00000365604.5:p.Ile613Arg | |
| ENST00000396432.6:c.3491T>G | ENSP00000379709.2:p.Ile1164Arg | |
| ENST00000418325.1:c.14T>G | ENSP00000402761.1:p.Ile5Arg | |
| ENST00000486374.5:n.3662T>G | ||
| ENST00000612832.4:c.1835T>G | ENSP00000480005.1:p.Ile612Arg | |
| NM_020824.3:c.3491T>G | NP_065875.3:p.Ile1164Arg | |
| XM_005252542.2:c.3491T>G | XP_005252599.1:p.Ile1164Arg | |
| XM_005252544.3:c.3461T>G | XP_005252601.1:p.Ile1154Arg | |
| XM_011519602.1:c.3593T>G | XP_011517904.1:p.Ile1198Arg | |
| XM_011519603.1:c.3593T>G | XP_011517905.1:p.Ile1198Arg | |
| XM_011519604.1:c.3593T>G | XP_011517906.1:p.Ile1198Arg | |
| XM_011519605.1:c.3563T>G | XP_011517907.1:p.Ile1188Arg | |
| XM_011519606.1:c.3389T>G | XP_011517908.1:p.Ile1130Arg | |
| XM_011519607.1:c.3593T>G | XP_011517909.1:p.Ile1198Arg | |
| XR_242701.3:n.3970T>G | ||
| XR_930513.1:n.4072T>G | ||
| XM_005252542.3:c.3491T>G | XP_005252599.1:p.Ile1164Arg | |
| XM_005252544.4:c.3461T>G | XP_005252601.1:p.Ile1154Arg | |
| XM_011519602.2:c.3593T>G | XP_011517904.1:p.Ile1198Arg | |
| XM_011519603.3:c.3593T>G | XP_011517905.1:p.Ile1198Arg | |
| XM_011519604.2:c.3593T>G | XP_011517906.1:p.Ile1198Arg | |
| XM_011519605.2:c.3563T>G | XP_011517907.1:p.Ile1188Arg | |
| XM_011519606.2:c.3389T>G | XP_011517908.1:p.Ile1130Arg | |
| XM_011519607.2:c.3593T>G | XP_011517909.1:p.Ile1198Arg | |
| XM_017016459.2:c.3491T>G | XP_016871948.1:p.Ile1164Arg | |
| XM_017016460.2:c.3461T>G | XP_016871949.1:p.Ile1154Arg | |
| XM_017016461.1:c.3461T>G | XP_016871950.1:p.Ile1154Arg | |
| XM_024448088.1:c.3359T>G | XP_024303856.1:p.Ile1120Arg | |
| XR_001747160.2:n.4248T>G | ||
| XR_001747161.2:n.4146T>G | ||
| XR_001747162.2:n.3950T>G | ||
| XR_001747163.2:n.4116T>G | ||
| XR_242701.5:n.5731T>G | ||
| XR_930513.3:n.5833T>G | ||
| NM_001367447.1:c.3461T>G | NP_001354376.1:p.Ile1154Arg | |
| NM_001367448.1:c.3491T>G | NP_001354377.1:p.Ile1164Arg | |
| NM_001367449.1:c.3197T>G | NP_001354378.1:p.Ile1066Arg | |
| NM_001367450.1:c.3197T>G | NP_001354379.1:p.Ile1066Arg | |
| NM_001367451.1:c.3461T>G | NP_001354380.1:p.Ile1154Arg | |
| NM_001367452.1:c.3020T>G | NP_001354381.1:p.Ile1007Arg | |
| NM_001367453.1:c.3461T>G | NP_001354382.1:p.Ile1154Arg | |
| NM_001367454.1:c.3491T>G | NP_001354383.1:p.Ile1164Arg | |
| NM_001367455.1:c.2852T>G | NP_001354384.1:p.Ile951Arg | |
| NM_020824.4:c.3491T>G MANE Select | NP_065875.3:p.Ile1164Arg | |
| NR_160021.1:n.3936T>G | ||
| NR_160022.1:n.3936T>G | ||
| NR_160023.1:n.4134T>G | ||
| NR_160024.1:n.3077T>G | ||
| NR_160025.1:n.3077T>G |