Linked Data
dbSNP Id:
rs1273529067
gnomAD v2:
6-157522532-A-G
gnomAD v3:
6-157201398-A-G
gnomAD v4:
6-157201398-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201398A>G , CM000668.2:g.157201398A>G | GRCh38 |
| NC_000006.11:g.157522532A>G , CM000668.1:g.157522532A>G | GRCh37 |
| NC_000006.10:g.157564224A>G | NCBI36 |
| NG_032093.1:g.428469A>G | |
| NG_032093.2:g.428469A>G | |
| NG_066624.1:g.430373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.5014A>G | ENSP00000055163.8:p.Ile1672Val | |
| ENST00000414678.8:c.5083A>G | ENSP00000412835.3:p.Ile1695Val | |
| ENST00000637015.2:c.5302A>G | ENSP00000489729.2:p.Ile1768Val | |
| ENST00000346085.10:c.5053A>G | ENSP00000344546.5:p.Ile1685Val | |
| ENST00000350026.10:c.4765A>G | ENSP00000055163.7:p.Ile1589Val | |
| ENST00000414678.7:c.3331A>G | ENSP00000412835.2:p.Ile1111Val | |
| ENST00000635849.1:c.2494A>G | ENSP00000490948.1:p.Ile832Val | |
| ENST00000635957.1:c.2125A>G | ENSP00000490385.1:p.Ile709Val | |
| ENST00000636227.1:n.3636A>G | ||
| ENST00000636254.1:n.1093A>G | ||
| ENST00000636930.2:c.5173A>G MANE Select | ENSP00000490491.2:p.Ile1725Val | |
| ENST00000636940.1:n.3170A>G | ||
| ENST00000637015.1:c.2541A>G | ||
| ENST00000637568.1:c.2455A>G | ||
| ENST00000637741.1:n.1839A>G | ||
| ENST00000637810.1:c.2515A>G | ENSP00000489636.1:p.Ile839Val | |
| ENST00000637904.1:c.2674A>G | ENSP00000490550.1:p.Ile892Val | |
| ENST00000647938.1:c.4804A>G | ENSP00000498155.1:p.Ile1602Val | |
| ENST00000346085.9:c.4804A>G | ENSP00000344546.4:p.Ile1602Val | |
| ENST00000350026.9:c.4765A>G | ENSP00000055163.7:p.Ile1589Val | |
| ENST00000414678.6:c.3331A>G | ENSP00000412835.2:p.Ile1111Val | |
| NM_017519.2:c.4765A>G | NP_059989.2:p.Ile1589Val | |
| NM_020732.3:c.4804A>G | NP_065783.3:p.Ile1602Val | |
| XM_005267069.3:c.4924A>G | XP_005267126.2:p.Ile1642Val | |
| XM_011535984.1:c.4003A>G | XP_011534286.1:p.Ile1335Val | |
| XM_011535985.1:c.3823A>G | XP_011534287.1:p.Ile1275Val | |
| XM_011535986.1:c.3583A>G | XP_011534288.1:p.Ile1195Val | |
| XM_011535987.1:c.3202A>G | XP_011534289.1:p.Ile1068Val | |
| XM_011535988.1:c.2065A>G | XP_011534290.1:p.Ile689Val | |
| NM_001346813.1:c.4924A>G | NP_001333742.1:p.Ile1642Val | |
| NM_001363725.1:c.2674A>G | NP_001350654.1:p.Ile892Val | |
| XM_011535984.2:c.5134A>G | XP_011534286.2:p.Ile1712Val | |
| XM_011535988.3:c.2065A>G | XP_011534290.1:p.Ile689Val | |
| XM_017011103.2:c.5035A>G | XP_016866592.1:p.Ile1679Val | |
| XM_017011104.1:c.5005A>G | XP_016866593.1:p.Ile1669Val | |
| XM_017011105.2:c.4975A>G | XP_016866594.1:p.Ile1659Val | |
| XM_017011106.2:c.4846A>G | XP_016866595.1:p.Ile1616Val | |
| XM_017011107.2:c.4825A>G | XP_016866596.1:p.Ile1609Val | |
| XR_002956289.1:n.5120A>G | ||
| NM_001363725.2:c.2674A>G | NP_001350654.1:p.Ile892Val | |
| NM_001371656.1:c.5053A>G | NP_001358585.1:p.Ile1685Val | |
| NM_001374820.1:c.5053A>G | NP_001361749.1:p.Ile1685Val | |
| NM_001374828.1:c.5173A>G MANE Select | NP_001361757.1:p.Ile1725Val | |
| NM_017519.3:c.5014A>G | NP_059989.3:p.Ile1672Val |