gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91945369 (EAS)
Genomes Max Group AF
0.88739315 (EAS)
Exomes Max Group AF
0.92136785 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161230697C>A , CM000663.2:g.161230697C>A | GRCh38 |
| NC_000001.10:g.161200487C>A , CM000663.1:g.161200487C>A | GRCh37 |
| NC_000001.9:g.159467111C>A | NCBI36 |
| NG_029113.1:g.12514G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367983.9:c.917+116G>T (NR1I3) MANE Select | ENSP00000356962.5:n.917+116G>T | |
| ENST00000367988.8:c.*1602C>A (TOMM40L) MANE Select | ENSP00000356967.3:n.*1602C>A | |
| ENST00000367979.6:c.944+116G>T (NR1I3) | ENSP00000356958.2:n.944+116G>T | |
| ENST00000367980.6:c.944+116G>T (NR1I3) | ENSP00000356959.2:n.944+116G>T | |
| ENST00000367981.7:c.845+116G>T (NR1I3) | ENSP00000356960.3:n.845+116G>T | |
| ENST00000367982.8:c.929+116G>T (NR1I3) | ENSP00000356961.4:n.929+116G>T | |
| ENST00000367983.8:c.917+116G>T (NR1I3) | ENSP00000356962.4:n.917+116G>T | |
| ENST00000367984.8:c.800+116G>T (NR1I3) | ENSP00000356963.4:n.800+116G>T | |
| ENST00000367985.7:c.815+116G>T (NR1I3) | ENSP00000356965.3:n.815+116G>T | |
| ENST00000412844.6:c.857+116G>T (NR1I3) | ENSP00000399361.2:n.857+116G>T | |
| ENST00000428574.6:c.932+116G>T (NR1I3) | ENSP00000412672.2:n.932+116G>T | |
| ENST00000437437.6:c.830+116G>T (NR1I3) | ENSP00000407446.2:n.830+116G>T | |
| ENST00000442691.6:c.929+116G>T (NR1I3) | ENSP00000406493.2:n.929+116G>T | |
| ENST00000464422.1:n.224+116G>T (NR1I3) | ||
| ENST00000479324.1:n.517+116G>T (NR1I3) | ||
| ENST00000488651.5:n.323+116G>T (NR1I3) | ||
| ENST00000502848.5:c.*270+116G>T (NR1I3) | ENSP00000426016.1:n.*270+116G>T | |
| ENST00000502985.5:c.*46+116G>T (NR1I3) | ENSP00000421374.1:n.*46+116G>T | |
| ENST00000504010.5:c.713+116G>T (NR1I3) | ENSP00000424345.1:n.713+116G>T | |
| ENST00000505005.5:c.800+116G>T (NR1I3) | ENSP00000424934.1:n.800+116G>T | |
| ENST00000506018.5:c.*215+116G>T (NR1I3) | ENSP00000424834.1:n.*215+116G>T | |
| ENST00000506209.5:c.*52G>T (NR1I3) | ENSP00000423089.1:n.*52G>T | |
| ENST00000507215.5:c.*270+116G>T (NR1I3) | ENSP00000425900.1:n.*270+116G>T | |
| ENST00000508387.5:c.*46+116G>T (NR1I3) | ENSP00000422982.1:n.*46+116G>T | |
| ENST00000508740.5:c.845+116G>T (NR1I3) | ENSP00000423666.1:n.845+116G>T | |
| ENST00000510951.5:c.*270+116G>T (NR1I3) | ENSP00000425607.1:n.*270+116G>T | |
| ENST00000511676.5:c.830+116G>T (NR1I3) | ENSP00000427175.1:n.830+116G>T | |
| ENST00000511748.5:c.*46+116G>T (NR1I3) | ENSP00000427600.1:n.*46+116G>T | |
| ENST00000511944.5:c.*46+116G>T (NR1I3) | ENSP00000426292.1:n.*46+116G>T | |
| ENST00000512340.5:c.*387+116G>T (NR1I3) | ENSP00000423007.1:n.*387+116G>T | |
| ENST00000512372.5:c.713+116G>T (NR1I3) | ENSP00000425417.1:n.713+116G>T | |
| ENST00000515621.5:c.692+116G>T (NR1I3) | ENSP00000421588.1:n.692+116G>T | |
| ENST00000545897.5:c.*1602C>A (TOMM40L) | ENSP00000443233.1:n.*1602C>A | |
| ENST00000628566.2:c.*387+116G>T (NR1I3) | ENSP00000487337.1:n.*387+116G>T | |
| NM_001077469.2:c.932+116G>T (NR1I3) | NP_001070937.1:n.932+116G>T | |
| NM_001077470.2:c.713+116G>T (NR1I3) | NP_001070938.1:n.713+116G>T | |
| NM_001077471.2:c.800+116G>T (NR1I3) | NP_001070939.1:n.800+116G>T | |
| NM_001077472.2:c.845+116G>T (NR1I3) | NP_001070940.1:n.845+116G>T | |
| NM_001077473.2:c.857+116G>T (NR1I3) | NP_001070941.1:n.857+116G>T | |
| NM_001077474.2:c.800+116G>T (NR1I3) | NP_001070942.1:n.800+116G>T | |
| NM_001077475.2:c.713+116G>T (NR1I3) | NP_001070943.1:n.713+116G>T | |
| NM_001077476.2:c.845+116G>T (NR1I3) | NP_001070944.1:n.845+116G>T | |
| NM_001077477.2:c.830+116G>T (NR1I3) | NP_001070945.1:n.830+116G>T | |
| NM_001077478.2:c.929+116G>T (NR1I3) | NP_001070946.1:n.929+116G>T | |
| NM_001077479.2:c.830+116G>T (NR1I3) | NP_001070947.1:n.830+116G>T | |
| NM_001077480.2:c.929+116G>T (NR1I3) | NP_001070948.1:n.929+116G>T | |
| NM_001077481.2:c.815+116G>T (NR1I3) | NP_001070949.1:n.815+116G>T | |
| NM_001077482.2:c.944+116G>T (NR1I3) | NP_001070950.1:n.944+116G>T | |
| NM_001286373.1:c.*1602C>A (TOMM40L) | NP_001273302.1:n.*1602C>A | |
| NM_001286374.1:c.*1602C>A (TOMM40L) | NP_001273303.1:n.*1602C>A | |
| NM_005122.4:c.917+116G>T (NR1I3) | NP_005113.1:n.917+116G>T | |
| NM_032174.5:c.*1602C>A (TOMM40L) | NP_115550.2:n.*1602C>A | |
| XM_005245693.3:c.1160+116G>T (NR1I3) | XP_005245750.1:n.1160+116G>T | |
| XM_005245694.3:c.1145+116G>T (NR1I3) | XP_005245751.1:n.1145+116G>T | |
| XM_005245697.3:c.932+116G>T (NR1I3) | XP_005245754.1:n.932+116G>T | |
| XM_006711572.1:c.*1602C>A (TOMM40L) | XP_006711635.1:n.*1602C>A | |
| XM_011510057.1:c.*1602C>A (TOMM40L) | XP_011508359.1:n.*1602C>A | |
| XM_011510237.1:c.1031+116G>T (NR1I3) | XP_011508539.1:n.1031+116G>T | |
| XM_005245693.4:c.1160+116G>T (NR1I3) | XP_005245750.1:n.1160+116G>T | |
| XM_005245694.5:c.1145+116G>T (NR1I3) | XP_005245751.1:n.1145+116G>T | |
| XM_005245697.4:c.932+116G>T (NR1I3) | XP_005245754.1:n.932+116G>T | |
| XM_011510237.3:c.1031+116G>T (NR1I3) | XP_011508539.1:n.1031+116G>T | |
| NM_032174.6:c.*1602C>A (TOMM40L) MANE Select | NP_115550.2:n.*1602C>A | |
| NM_001077469.3:c.932+116G>T (NR1I3) | NP_001070937.1:n.932+116G>T | |
| NM_001077470.3:c.713+116G>T (NR1I3) | NP_001070938.1:n.713+116G>T | |
| NM_001077471.3:c.800+116G>T (NR1I3) | NP_001070939.1:n.800+116G>T | |
| NM_001077472.3:c.845+116G>T (NR1I3) | NP_001070940.1:n.845+116G>T | |
| NM_001077473.3:c.857+116G>T (NR1I3) | NP_001070941.1:n.857+116G>T | |
| NM_001077474.3:c.800+116G>T (NR1I3) | NP_001070942.1:n.800+116G>T | |
| NM_001077475.3:c.713+116G>T (NR1I3) | NP_001070943.1:n.713+116G>T | |
| NM_001077476.3:c.845+116G>T (NR1I3) | NP_001070944.1:n.845+116G>T | |
| NM_001077477.3:c.830+116G>T (NR1I3) | NP_001070945.1:n.830+116G>T | |
| NM_001077478.3:c.929+116G>T (NR1I3) | NP_001070946.1:n.929+116G>T | |
| NM_001077479.3:c.830+116G>T (NR1I3) | NP_001070947.1:n.830+116G>T | |
| NM_001077480.3:c.929+116G>T (NR1I3) | NP_001070948.1:n.929+116G>T | |
| NM_001077481.3:c.815+116G>T (NR1I3) | NP_001070949.1:n.815+116G>T | |
| NM_001286374.2:c.*1602C>A (TOMM40L) | NP_001273303.1:n.*1602C>A | |
| NM_005122.5:c.917+116G>T (NR1I3) MANE Select | NP_005113.1:n.917+116G>T | |
| NM_001077482.3:c.944+116G>T (NR1I3) | NP_001070950.1:n.944+116G>T | |
| NM_001286373.2:c.*1602C>A (TOMM40L) | NP_001273302.1:n.*1602C>A |