gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009359 (NFE)
Genomes Max Group AF
0.00004766 (NFE)
Exomes Max Group AF
0.00009312 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169400322A>G , CM000666.2:g.169400322A>G | GRCh38 |
| NC_000004.11:g.170321473A>G , CM000666.1:g.170321473A>G | GRCh37 |
| NC_000004.10:g.170558048A>G | NCBI36 |
| NG_027982.1:g.217306T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.3582T>C | ENSP00000508844.1:p.Ile1194= | |
| ENST00000685677.1:n.3048T>C | ||
| ENST00000686697.1:c.3267T>C | ENSP00000508689.1:p.Ile1089= | |
| ENST00000687054.1:n.4244T>C | ||
| ENST00000687528.1:c.*2485T>C | ENSP00000510228.1:n.*2485T>C | |
| ENST00000687643.1:c.3693T>C | ENSP00000509309.1:p.Ile1231= | |
| ENST00000688934.1:c.1773T>C | ENSP00000510760.1:p.Ile591= | |
| ENST00000690540.1:n.3200T>C | ||
| ENST00000507142.6:c.3750T>C MANE Select | ENSP00000424757.2:p.Ile1250= | |
| ENST00000638824.1:n.1878T>C | ||
| ENST00000439128.6:c.3666T>C | ENSP00000408020.2:p.Ile1222= | |
| ENST00000507142.5:c.3750T>C | ENSP00000424757.1:p.Ile1250= | |
| ENST00000510533.5:c.3534T>C | ENSP00000427653.1:p.Ile1178= | |
| ENST00000511633.5:c.3618T>C | ENSP00000423332.1:p.Ile1206= | |
| ENST00000512193.5:c.3459T>C | ENSP00000424938.1:p.Ile1153= | |
| NM_001199397.1:c.3750T>C | NP_001186326.1:p.Ile1250= | |
| NM_001199398.1:c.3618T>C | NP_001186327.1:p.Ile1206= | |
| NM_001199399.1:c.3459T>C | NP_001186328.1:p.Ile1153= | |
| NM_001199400.1:c.3534T>C | NP_001186329.1:p.Ile1178= | |
| NM_012224.2:c.3666T>C | NP_036356.1:p.Ile1222= | |
| XM_006714228.1:c.3573T>C | XP_006714291.1:p.Ile1191= | |
| XM_011532003.1:c.3666T>C | XP_011530305.1:p.Ile1222= | |
| XM_011532004.1:c.3534T>C | XP_011530306.1:p.Ile1178= | |
| XM_017008249.1:c.3129T>C | XP_016863738.1:p.Ile1043= | |
| XM_017008251.1:c.3045T>C | XP_016863740.1:p.Ile1015= | |
| XM_017008252.2:c.3045T>C | XP_016863741.1:p.Ile1015= | |
| XM_017008253.1:c.2598T>C | XP_016863742.1:p.Ile866= | |
| XM_017008254.1:c.2394T>C | XP_016863743.1:p.Ile798= | |
| XM_024454065.1:c.3129T>C | XP_024309833.1:p.Ile1043= | |
| XR_001741233.1:n.4035T>C | ||
| NM_001199397.3:c.3750T>C MANE Select | NP_001186326.1:p.Ile1250= | |
| NM_001199398.2:c.3618T>C | NP_001186327.1:p.Ile1206= | |
| NM_001199399.2:c.3459T>C | NP_001186328.1:p.Ile1153= | |
| NM_001199400.2:c.3534T>C | NP_001186329.1:p.Ile1178= | |
| NM_001374418.1:c.3750T>C | NP_001361347.1:p.Ile1250= | |
| NM_001374419.1:c.3666T>C | NP_001361348.1:p.Ile1222= | |
| NM_001374420.1:c.3615T>C | NP_001361349.1:p.Ile1205= | |
| NM_001374421.1:c.3267T>C | NP_001361350.1:p.Ile1089= | |
| NM_012224.3:c.3666T>C | NP_036356.1:p.Ile1222= | |
| NR_164630.1:n.4212T>C | ||
| NM_001199398.3:c.3618T>C | NP_001186327.1:p.Ile1206= | |
| NM_001199399.3:c.3459T>C | NP_001186328.1:p.Ile1153= | |
| NM_001199400.3:c.3534T>C | NP_001186329.1:p.Ile1178= | |
| NM_012224.4:c.3666T>C | NP_036356.1:p.Ile1222= |