gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38995280A>G , CM000664.2:g.38995280A>G | GRCh38 |
| NC_000002.11:g.39222421A>G , CM000664.1:g.39222421A>G | GRCh37 |
| NC_000002.10:g.39075925A>G | NCBI36 |
| NG_007530.1:g.130184T>C , LRG_754:g.130184T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.1956T>C | ENSP00000509424.1:p.Ile652= | |
| ENST00000690876.1:c.*495T>C | ENSP00000508955.1:n.*495T>C | |
| ENST00000691229.1:c.2958T>C | ENSP00000510437.1:p.Ile986= | |
| ENST00000692089.1:c.3078T>C | ENSP00000508626.1:p.Ile1026= | |
| ENST00000692227.1:c.885T>C | ENSP00000509138.1:p.Ile295= | |
| ENST00000692620.1:c.*776T>C | ENSP00000509311.1:n.*776T>C | |
| ENST00000402219.8:c.3189T>C MANE Select | ENSP00000384675.2:p.Ile1063= | |
| ENST00000395038.6:c.3189T>C | ENSP00000378479.2:p.Ile1063= | |
| ENST00000402219.6:c.3189T>C | ENSP00000384675.2:p.Ile1063= | |
| ENST00000426016.5:c.3189T>C | ENSP00000387784.1:p.Ile1063= | |
| NM_005633.3:c.3189T>C , LRG_754t1:c.3189T>C | NP_005624.2:p.Ile1063= | |
| XM_005264515.3:c.3189T>C | XP_005264572.1:p.Ile1063= | |
| XM_011533060.1:c.3282T>C | XP_011531362.1:p.Ile1094= | |
| XM_011533061.1:c.3282T>C | XP_011531363.1:p.Ile1094= | |
| XM_011533062.1:c.3168T>C | XP_011531364.1:p.Ile1056= | |
| XM_011533063.1:c.3165T>C | XP_011531365.1:p.Ile1055= | |
| XM_011533064.1:c.3018T>C | XP_011531366.1:p.Ile1006= | |
| XM_011533065.1:c.3282T>C | XP_011531367.1:p.Ile1094= | |
| XM_011533066.1:c.2124T>C | XP_011531368.1:p.Ile708= | |
| XM_005264515.4:c.3189T>C | XP_005264572.1:p.Ile1063= | |
| XM_011533062.2:c.3168T>C | XP_011531364.1:p.Ile1056= | |
| XM_011533064.2:c.3018T>C | XP_011531366.1:p.Ile1006= | |
| NM_001382394.1:c.3168T>C | NP_001369323.1:p.Ile1056= | |
| NM_001382395.1:c.3189T>C | NP_001369324.1:p.Ile1063= | |
| NM_005633.4:c.3189T>C MANE Select | NP_005624.2:p.Ile1063= |