Linked Data
ClinVar Variation Id:
227200
dbSNP Id:
rs146892408
ExAC:
3:53783341 A / G
gnomAD v2:
3-53783341-A-G
gnomAD v3:
3-53749314-A-G
gnomAD v4:
3-53749314-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53749314A>G , CM000665.2:g.53749314A>G | GRCh38 |
| NC_000003.11:g.53783341A>G , CM000665.1:g.53783341A>G | GRCh37 |
| NC_000003.10:g.53758381A>G | NCBI36 |
| NG_032999.1:g.259266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.3421A>G | ENSP00000418014.2:p.Ile1141Val | |
| ENST00000636627.2:c.3421A>G | ENSP00000490889.2:p.Ile1141Val | |
| ENST00000288139.11:c.3421A>G MANE Plus Clinical | ENSP00000288139.3:p.Ile1141Val | |
| ENST00000350061.11:c.3361A>G MANE Select | ENSP00000288133.5:p.Ile1121Val | |
| ENST00000422281.7:c.3361A>G | ENSP00000409174.2:p.Ile1121Val | |
| ENST00000636570.1:c.3361A>G | ENSP00000490183.1:p.Ile1121Val | |
| ENST00000636627.1:c.2661A>G | ||
| ENST00000636723.1:c.242A>G | ||
| ENST00000636938.1:c.3361A>G | ENSP00000490039.1:p.Ile1121Val | |
| ENST00000637424.1:c.3433A>G | ENSP00000489769.1:p.Ile1145Val | |
| ENST00000638120.1:c.-66A>G | ENSP00000489790.1:n.-66A>G | |
| ENST00000640483.1:c.3394A>G | ENSP00000491921.1:p.Ile1132Val | |
| ENST00000645528.2:c.549A>G | ||
| ENST00000288139.8:c.3421A>G | ENSP00000288139.3:p.Ile1141Val | |
| ENST00000350061.9:c.3361A>G | ENSP00000288133.5:p.Ile1121Val | |
| ENST00000422281.6:c.3361A>G | ENSP00000409174.2:p.Ile1121Val | |
| ENST00000481478.1:c.2440A>G | ENSP00000418014.1:p.Ile814Val | |
| NM_000720.3:c.3421A>G | NP_000711.1:p.Ile1141Val | |
| NM_001128839.2:c.3361A>G | NP_001122311.1:p.Ile1121Val | |
| NM_001128840.2:c.3361A>G | NP_001122312.1:p.Ile1121Val | |
| XM_005265448.2:c.3361A>G | XP_005265505.1:p.Ile1121Val | |
| XM_011534094.1:c.3532A>G | XP_011532396.1:p.Ile1178Val | |
| XM_011534095.1:c.3421A>G | XP_011532397.1:p.Ile1141Val | |
| XM_011534096.1:c.3472A>G | XP_011532398.1:p.Ile1158Val | |
| XM_011534097.1:c.2995A>G | XP_011532399.1:p.Ile999Val | |
| XM_011534098.1:c.2995A>G | XP_011532400.1:p.Ile999Val | |
| XM_011534099.1:c.2620A>G | XP_011532401.1:p.Ile874Val | |
| XM_011534100.1:c.3472A>G | XP_011532402.1:p.Ile1158Val | |
| XM_005265448.3:c.3361A>G | XP_005265505.1:p.Ile1121Val | |
| XM_011534094.2:c.3532A>G | XP_011532396.1:p.Ile1178Val | |
| XM_011534096.2:c.3472A>G | XP_011532398.1:p.Ile1158Val | |
| XM_011534097.2:c.2995A>G | XP_011532399.1:p.Ile999Val | |
| XM_011534099.2:c.2620A>G | XP_011532401.1:p.Ile874Val | |
| XM_011534100.2:c.3472A>G | XP_011532402.1:p.Ile1158Val | |
| XM_017007137.1:c.3532A>G | XP_016862626.1:p.Ile1178Val | |
| XM_017007138.1:c.3529A>G | XP_016862627.1:p.Ile1177Val | |
| XM_017007139.1:c.3532A>G | XP_016862628.1:p.Ile1178Val | |
| XM_017007140.1:c.3472A>G | XP_016862629.1:p.Ile1158Val | |
| XM_017007141.1:c.3472A>G | XP_016862630.1:p.Ile1158Val | |
| XM_017007142.1:c.3532A>G | XP_016862631.1:p.Ile1178Val | |
| XM_017007143.1:c.3532A>G | XP_016862632.1:p.Ile1178Val | |
| XM_017007144.1:c.3532A>G | XP_016862633.1:p.Ile1178Val | |
| XM_017007145.1:c.3532A>G | XP_016862634.1:p.Ile1178Val | |
| NM_001128840.3:c.3361A>G MANE Select | NP_001122312.1:p.Ile1121Val | |
| NM_000720.4:c.3421A>G MANE Plus Clinical | NP_000711.1:p.Ile1141Val | |
| NM_001128839.3:c.3361A>G | NP_001122311.1:p.Ile1121Val |