gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00199554 (NFE)
Genomes Max Group AF
0.00211166 (NFE)
Exomes Max Group AF
0.00197279 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235734531G>A , CM000663.2:g.235734531G>A | GRCh38 |
| NC_000001.10:g.235897831G>A , CM000663.1:g.235897831G>A | GRCh37 |
| NC_000001.9:g.233964454G>A | NCBI36 |
| NG_007397.1:g.154110C>T , LRG_143:g.154110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.4015C>T | ENSP00000513165.1:n.4015C>T | |
| ENST00000475277.2:c.582C>T | ENSP00000513164.1:p.Ile194= | |
| ENST00000697178.1:c.*3911C>T | ENSP00000513163.1:n.*3911C>T | |
| ENST00000697236.1:c.2196C>T | ENSP00000513203.1:p.Ile732= | |
| ENST00000697240.1:c.621C>T | ENSP00000513205.1:p.Ile207= | |
| ENST00000697241.1:c.2967C>T | ENSP00000513206.1:p.Ile989= | |
| ENST00000389793.7:c.8487C>T MANE Select | ENSP00000374443.2:p.Ile2829= | |
| ENST00000389793.6:c.8487C>T | ENSP00000374443.2:p.Ile2829= | |
| ENST00000389794.7:c.*3911C>T | ENSP00000374444.4:n.*3911C>T | |
| ENST00000473037.5:n.3477C>T | ||
| NM_000081.3:c.8487C>T , LRG_143t1:c.8487C>T | NP_000072.2:p.Ile2829= | |
| NM_001301365.1:c.8487C>T , LRG_143t2:c.8487C>T | NP_001288294.1:p.Ile2829= | |
| XM_011544031.1:c.8649C>T | XP_011542333.1:p.Ile2883= | |
| XM_011544032.1:c.8649C>T | XP_011542334.1:p.Ile2883= | |
| XM_011544033.1:c.8649C>T | XP_011542335.1:p.Ile2883= | |
| XM_011544034.1:c.8511C>T | XP_011542336.1:p.Ile2837= | |
| XM_011544035.1:c.8649C>T | XP_011542337.1:p.Ile2883= | |
| XM_011544036.1:c.6312C>T | XP_011542338.1:p.Ile2104= | |
| XM_011544033.2:c.8649C>T | XP_011542335.1:p.Ile2883= | |
| XM_011544035.2:c.8649C>T | XP_011542337.1:p.Ile2883= | |
| XM_011544036.2:c.6312C>T | XP_011542338.1:p.Ile2104= | |
| XM_017000150.1:c.8649C>T | XP_016855639.1:p.Ile2883= | |
| XR_001736947.1:n.9522C>T | ||
| NM_000081.4:c.8487C>T MANE Select | NP_000072.2:p.Ile2829= |