gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42812453 (EAS)
Genomes Max Group AF
0.41214791 (EAS)
Exomes Max Group AF
0.42864848 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161233437G>A , CM000663.2:g.161233437G>A | GRCh38 |
| NC_000001.10:g.161203227G>A , CM000663.1:g.161203227G>A | GRCh37 |
| NC_000001.9:g.159469851G>A | NCBI36 |
| NG_029113.1:g.9774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367983.9:c.239-99C>T MANE Select | ENSP00000356962.5:n.239-99C>T | |
| ENST00000367979.6:c.239-99C>T | ENSP00000356958.2:n.239-99C>T | |
| ENST00000367980.6:c.239-99C>T | ENSP00000356959.2:n.239-99C>T | |
| ENST00000367981.7:c.152-99C>T | ENSP00000356960.3:n.152-99C>T | |
| ENST00000367982.8:c.239-99C>T | ENSP00000356961.4:n.239-99C>T | |
| ENST00000367983.8:c.239-99C>T | ENSP00000356962.4:n.239-99C>T | |
| ENST00000367984.8:c.239-99C>T | ENSP00000356963.4:n.239-99C>T | |
| ENST00000367985.7:c.239-99C>T | ENSP00000356965.3:n.239-99C>T | |
| ENST00000412844.6:c.152-99C>T | ENSP00000399361.2:n.152-99C>T | |
| ENST00000428574.6:c.239-99C>T | ENSP00000412672.2:n.239-99C>T | |
| ENST00000437437.6:c.152-99C>T | ENSP00000407446.2:n.152-99C>T | |
| ENST00000442691.6:c.239-99C>T | ENSP00000406493.2:n.239-99C>T | |
| ENST00000502848.5:c.239-491C>T | ENSP00000426016.1:n.239-491C>T | |
| ENST00000502985.5:c.239-1963C>T | ENSP00000421374.1:n.239-1963C>T | |
| ENST00000503547.1:n.182-491C>T | ||
| ENST00000504010.5:c.152-99C>T | ENSP00000424345.1:n.152-99C>T | |
| ENST00000505005.5:c.239-99C>T | ENSP00000424934.1:n.239-99C>T | |
| ENST00000505944.5:n.182-491C>T | ||
| ENST00000506018.5:c.152-99C>T | ENSP00000424834.1:n.152-99C>T | |
| ENST00000506209.5:c.152-99C>T | ENSP00000423089.1:n.152-99C>T | |
| ENST00000507215.5:c.152-491C>T | ENSP00000425900.1:n.152-491C>T | |
| ENST00000508387.5:c.152-1963C>T | ENSP00000422982.1:n.152-1963C>T | |
| ENST00000508740.5:c.152-99C>T | ENSP00000423666.1:n.152-99C>T | |
| ENST00000510951.5:c.152-491C>T | ENSP00000425607.1:n.152-491C>T | |
| ENST00000511676.5:c.152-99C>T | ENSP00000427175.1:n.152-99C>T | |
| ENST00000511748.5:c.152-1963C>T | ENSP00000427600.1:n.152-1963C>T | |
| ENST00000511944.5:c.239-1963C>T | ENSP00000426292.1:n.239-1963C>T | |
| ENST00000512340.5:c.152-491C>T | ENSP00000423007.1:n.152-491C>T | |
| ENST00000512372.5:c.152-99C>T | ENSP00000425417.1:n.152-99C>T | |
| ENST00000515452.1:c.239-99C>T | ENSP00000427034.1:n.239-99C>T | |
| ENST00000515621.5:c.14-99C>T | ENSP00000421588.1:n.14-99C>T | |
| ENST00000628566.2:c.239-491C>T | ENSP00000487337.1:n.239-491C>T | |
| NM_001077469.2:c.239-99C>T | NP_001070937.1:n.239-99C>T | |
| NM_001077470.2:c.152-99C>T | NP_001070938.1:n.152-99C>T | |
| NM_001077471.2:c.239-99C>T | NP_001070939.1:n.239-99C>T | |
| NM_001077472.2:c.152-99C>T | NP_001070940.1:n.152-99C>T | |
| NM_001077473.2:c.152-99C>T | NP_001070941.1:n.152-99C>T | |
| NM_001077474.2:c.239-99C>T | NP_001070942.1:n.239-99C>T | |
| NM_001077475.2:c.152-99C>T | NP_001070943.1:n.152-99C>T | |
| NM_001077476.2:c.152-99C>T | NP_001070944.1:n.152-99C>T | |
| NM_001077477.2:c.152-99C>T | NP_001070945.1:n.152-99C>T | |
| NM_001077478.2:c.239-99C>T | NP_001070946.1:n.239-99C>T | |
| NM_001077479.2:c.152-99C>T | NP_001070947.1:n.152-99C>T | |
| NM_001077480.2:c.239-99C>T | NP_001070948.1:n.239-99C>T | |
| NM_001077481.2:c.239-99C>T | NP_001070949.1:n.239-99C>T | |
| NM_001077482.2:c.239-99C>T | NP_001070950.1:n.239-99C>T | |
| NM_005122.4:c.239-99C>T | NP_005113.1:n.239-99C>T | |
| XM_005245693.3:c.455-99C>T | XP_005245750.1:n.455-99C>T | |
| XM_005245694.3:c.455-99C>T | XP_005245751.1:n.455-99C>T | |
| XM_005245697.3:c.239-99C>T | XP_005245754.1:n.239-99C>T | |
| XM_011510237.1:c.455-99C>T | XP_011508539.1:n.455-99C>T | |
| XM_005245693.4:c.455-99C>T | XP_005245750.1:n.455-99C>T | |
| XM_005245694.5:c.455-99C>T | XP_005245751.1:n.455-99C>T | |
| XM_005245697.4:c.239-99C>T | XP_005245754.1:n.239-99C>T | |
| XM_011510237.3:c.455-99C>T | XP_011508539.1:n.455-99C>T | |
| NM_001077469.3:c.239-99C>T | NP_001070937.1:n.239-99C>T | |
| NM_001077470.3:c.152-99C>T | NP_001070938.1:n.152-99C>T | |
| NM_001077471.3:c.239-99C>T | NP_001070939.1:n.239-99C>T | |
| NM_001077472.3:c.152-99C>T | NP_001070940.1:n.152-99C>T | |
| NM_001077473.3:c.152-99C>T | NP_001070941.1:n.152-99C>T | |
| NM_001077474.3:c.239-99C>T | NP_001070942.1:n.239-99C>T | |
| NM_001077475.3:c.152-99C>T | NP_001070943.1:n.152-99C>T | |
| NM_001077476.3:c.152-99C>T | NP_001070944.1:n.152-99C>T | |
| NM_001077477.3:c.152-99C>T | NP_001070945.1:n.152-99C>T | |
| NM_001077478.3:c.239-99C>T | NP_001070946.1:n.239-99C>T | |
| NM_001077479.3:c.152-99C>T | NP_001070947.1:n.152-99C>T | |
| NM_001077480.3:c.239-99C>T | NP_001070948.1:n.239-99C>T | |
| NM_001077481.3:c.239-99C>T | NP_001070949.1:n.239-99C>T | |
| NM_005122.5:c.239-99C>T MANE Select | NP_005113.1:n.239-99C>T | |
| NM_001077482.3:c.239-99C>T | NP_001070950.1:n.239-99C>T |