gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Genomes Max Group AF
0.0000117 (NFE)
Exomes Max Group AF
0.00001747 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73219196C>T , CM000676.2:g.73219196C>T | GRCh38 |
| NC_000014.8:g.73685904C>T , CM000676.1:g.73685904C>T | GRCh37 |
| NC_000014.7:g.72755657C>T | NCBI36 |
| NG_007386.2:g.87726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.1299C>T | ENSP00000452477.2:p.Ile433= | |
| ENST00000554131.6:c.1311C>T | ENSP00000451915.2:p.Ile437= | |
| ENST00000554995.2:n.2061C>T | ||
| ENST00000555386.6:c.*266C>T | ENSP00000450845.1:n.*266C>T | |
| ENST00000556066.2:n.1737C>T | ||
| ENST00000556951.6:c.1299C>T | ENSP00000450551.2:p.Ile433= | |
| ENST00000557293.6:c.1191C>T | ENSP00000451880.2:p.Ile397= | |
| ENST00000559361.6:c.*1255C>T | ENSP00000454156.1:n.*1255C>T | |
| ENST00000697912.1:c.*499C>T | ENSP00000513477.1:n.*499C>T | |
| ENST00000697913.1:n.6861C>T | ||
| ENST00000697915.1:n.668C>T | ||
| ENST00000700265.1:c.1299C>T | ENSP00000514901.1:p.Ile433= | |
| ENST00000700266.1:c.*1523C>T | ENSP00000514902.1:n.*1523C>T | |
| ENST00000700267.1:c.1311C>T | ENSP00000514903.1:p.Ile437= | |
| ENST00000700268.1:c.1311C>T | ENSP00000514904.1:p.Ile437= | |
| ENST00000700269.1:c.1311C>T | ENSP00000514905.1:p.Ile437= | |
| ENST00000700271.1:c.1125C>T | ENSP00000514906.1:p.Ile375= | |
| ENST00000700272.1:c.*1255C>T | ENSP00000514907.1:n.*1255C>T | |
| ENST00000700273.1:c.1299C>T | ENSP00000514908.1:p.Ile433= | |
| ENST00000700302.1:c.*127C>T | ENSP00000514929.1:n.*127C>T | |
| ENST00000700303.1:c.*973C>T | ENSP00000514930.1:n.*973C>T | |
| ENST00000700304.1:c.*1255C>T | ENSP00000514931.1:n.*1255C>T | |
| ENST00000700305.1:c.*869C>T | ENSP00000514932.1:n.*869C>T | |
| ENST00000700306.1:c.1311C>T | ENSP00000514933.1:p.Ile437= | |
| ENST00000700307.1:c.1212C>T | ENSP00000514934.1:p.Ile404= | |
| ENST00000700308.1:c.*1255C>T | ENSP00000514935.1:n.*1255C>T | |
| ENST00000700309.1:c.*1400C>T | ENSP00000514936.1:n.*1400C>T | |
| ENST00000700310.1:c.*266C>T | ENSP00000514937.1:n.*266C>T | |
| ENST00000700311.1:c.*127C>T | ENSP00000514938.1:n.*127C>T | |
| ENST00000700312.1:c.1062C>T | ENSP00000514939.1:p.Ile354= | |
| ENST00000700313.1:c.1299C>T | ENSP00000514940.1:p.Ile433= | |
| ENST00000700314.1:c.*1250C>T | ENSP00000514941.1:n.*1250C>T | |
| ENST00000700315.1:c.*869C>T | ENSP00000514942.1:n.*869C>T | |
| ENST00000700316.1:c.*1091C>T | ENSP00000514943.1:n.*1091C>T | |
| ENST00000700317.1:c.1311C>T | ENSP00000514944.1:p.Ile437= | |
| ENST00000700318.1:c.*973C>T | ENSP00000514945.1:n.*973C>T | |
| ENST00000700319.1:c.*751C>T | ENSP00000514946.1:n.*751C>T | |
| ENST00000700320.1:c.1338C>T | ENSP00000514947.1:p.Ile446= | |
| ENST00000700321.1:c.1311C>T | ENSP00000514948.1:p.Ile437= | |
| ENST00000700322.1:c.1299C>T | ENSP00000514949.1:p.Ile433= | |
| ENST00000700323.1:c.1311C>T | ENSP00000514950.1:p.Ile437= | |
| ENST00000700324.1:c.1299C>T | ENSP00000514951.1:p.Ile433= | |
| ENST00000700375.1:c.1311C>T | ENSP00000514966.1:p.Ile437= | |
| ENST00000700377.1:c.*779C>T | ENSP00000514967.1:n.*779C>T | |
| ENST00000700378.1:c.1311C>T | ENSP00000514968.1:p.Ile437= | |
| ENST00000700379.1:n.1709C>T | ||
| ENST00000700389.1:c.1299C>T | ENSP00000514970.1:p.Ile433= | |
| ENST00000700390.1:n.3022C>T | ||
| ENST00000700391.1:n.522C>T | ||
| ENST00000700404.1:n.2310C>T | ||
| ENST00000700436.1:c.*266C>T | ENSP00000514987.1:n.*266C>T | |
| ENST00000700437.1:c.1062C>T | ENSP00000514988.1:p.Ile354= | |
| ENST00000700468.1:c.1200C>T | ENSP00000515001.1:p.Ile400= | |
| ENST00000700469.1:c.1299C>T | ENSP00000515002.1:p.Ile433= | |
| ENST00000324501.10:c.1311C>T MANE Select | ENSP00000326366.5:p.Ile437= | |
| ENST00000324501.9:c.1311C>T | ENSP00000326366.5:p.Ile437= | |
| ENST00000357710.8:c.1299C>T | ENSP00000350342.4:p.Ile433= | |
| ENST00000394164.5:c.1299C>T | ENSP00000377719.1:p.Ile433= | |
| ENST00000406768.1:c.1035C>T | ENSP00000385948.1:p.Ile345= | |
| ENST00000555386.5:c.1391C>T | ENSP00000450845.1:n.1391C>T | |
| ENST00000555867.1:n.676C>T | ||
| ENST00000557511.5:c.1137C>T | ENSP00000451429.1:p.Ile379= | |
| NM_000021.3:c.1311C>T | NP_000012.1:p.Ile437= | |
| NM_007318.2:c.1299C>T | NP_015557.2:p.Ile433= | |
| XM_005267864.1:c.1311C>T | XP_005267921.1:p.Ile437= | |
| XM_005267866.1:c.1299C>T | XP_005267923.1:p.Ile433= | |
| XM_011536971.1:c.1311C>T | XP_011535273.1:p.Ile437= | |
| XM_011536972.1:c.1311C>T | XP_011535274.1:p.Ile437= | |
| XM_011536973.1:c.1299C>T | XP_011535275.1:p.Ile433= | |
| XM_011536974.1:c.1299C>T | XP_011535276.1:p.Ile433= | |
| XM_005267864.3:c.1311C>T | XP_005267921.1:p.Ile437= | |
| XM_005267866.2:c.1299C>T | XP_005267923.1:p.Ile433= | |
| XM_011536972.2:c.1311C>T | XP_011535274.1:p.Ile437= | |
| XM_011536973.2:c.1299C>T | XP_011535275.1:p.Ile433= | |
| XM_011536974.2:c.1299C>T | XP_011535276.1:p.Ile433= | |
| NM_000021.4:c.1311C>T MANE Select | NP_000012.1:p.Ile437= | |
| NM_007318.3:c.1299C>T | NP_015557.2:p.Ile433= |