Linked Data
dbSNP Id:
rs775593071
ExAC:
5:140075183 A / G
gnomAD v2:
5-140075183-A-G
gnomAD v4:
5-140695598-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140695598A>G , CM000667.2:g.140695598A>G | GRCh38 |
| NC_000005.9:g.140075183A>G , CM000667.1:g.140075183A>G | GRCh37 |
| NC_000005.8:g.140055367A>G | NCBI36 |
| NG_021415.1:g.9166A>G | |
| NG_032158.1:g.789T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230771.9:c.490A>G MANE Select | ENSP00000230771.3:p.Ile164Val | |
| ENST00000503873.6:c.304-140A>G | ENSP00000424516.2:n.304-140A>G | |
| ENST00000509299.6:c.280A>G | ENSP00000425695.2:p.Ile94Val | |
| ENST00000520095.6:c.*104-140A>G | ENSP00000429220.1:n.*104-140A>G | |
| ENST00000642452.1:c.456A>G | ||
| ENST00000642752.1:c.490A>G | ENSP00000493630.1:p.Ile164Val | |
| ENST00000642970.1:c.280A>G | ENSP00000496011.1:p.Ile94Val | |
| ENST00000643996.1:c.280A>G | ENSP00000495350.1:p.Ile94Val | |
| ENST00000645065.1:c.508A>G | ENSP00000493571.1:p.Ile170Val | |
| ENST00000645749.1:c.490A>G | ENSP00000494296.1:p.Ile164Val | |
| ENST00000646468.1:c.508A>G | ENSP00000494965.1:p.Ile170Val | |
| ENST00000647484.1:c.280A>G | ENSP00000494140.1:p.Ile94Val | |
| ENST00000230771.7:c.490A>G | ENSP00000230771.3:p.Ile164Val | |
| ENST00000448069.2:c.109-140A>G | ENSP00000407105.2:n.109-140A>G | |
| ENST00000508522.5:c.415A>G | ENSP00000423616.1:p.Ile139Val | |
| ENST00000509299.5:c.508A>G | ENSP00000425695.1:p.Ile170Val | |
| ENST00000510104.5:c.*290A>G | ENSP00000423530.1:n.*290A>G | |
| ENST00000513688.1:n.497A>G | ||
| ENST00000520095.5:c.*104-140A>G | ENSP00000429220.1:n.*104-140A>G | |
| NM_001278731.1:c.415A>G | NP_001265660.1:p.Ile139Val | |
| NM_001278732.1:c.94-140A>G | NP_001265661.1:n.94-140A>G | |
| NM_012208.3:c.490A>G | NP_036340.1:p.Ile164Val | |
| XM_011537619.1:c.508A>G | XP_011535921.1:p.Ile170Val | |
| XM_011537620.1:c.508A>G | XP_011535922.1:p.Ile170Val | |
| NM_001363535.1:c.508A>G | NP_001350464.1:p.Ile170Val | |
| NM_001363536.1:c.280A>G | NP_001350465.1:p.Ile94Val | |
| XM_017009288.1:c.280A>G | XP_016864777.1:p.Ile94Val | |
| XM_017009289.1:c.280A>G | XP_016864778.1:p.Ile94Val | |
| XM_017009290.2:c.-245A>G | XP_016864779.1:n.-245A>G | |
| XM_017009291.1:c.-245A>G | XP_016864780.1:n.-245A>G | |
| XM_017009292.1:c.-245A>G | XP_016864781.1:n.-245A>G | |
| NM_012208.4:c.490A>G MANE Select | NP_036340.1:p.Ile164Val | |
| NM_001278731.2:c.415A>G | NP_001265660.1:p.Ile139Val | |
| NM_001278732.2:c.94-140A>G | NP_001265661.1:n.94-140A>G | |
| NM_001363535.2:c.508A>G | NP_001350464.1:p.Ile170Val | |
| NM_001363536.2:c.280A>G | NP_001350465.1:p.Ile94Val |