gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92606727 (EAS)
Genomes Max Group AF
0.92606727 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196691131A>G , CM000663.2:g.196691131A>G | GRCh38 |
| NC_000001.10:g.196660261A>G , CM000663.1:g.196660261A>G | GRCh37 |
| NC_000001.9:g.194926884A>G | NCBI36 |
| NG_007259.1:g.44121A>G , LRG_47:g.44121A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359637.3:c.1144+892A>G | ENSP00000352658.2:n.1144+892A>G | |
| ENST00000470918.2:n.1602+892A>G | ||
| ENST00000695968.1:c.1153+892A>G | ENSP00000512295.1:n.1153+892A>G | |
| ENST00000695969.1:c.1336+892A>G | ENSP00000512296.1:n.1336+892A>G | |
| ENST00000695970.1:c.1336+892A>G | ENSP00000512297.1:n.1336+892A>G | |
| ENST00000695971.1:c.1315+892A>G | ENSP00000512298.1:n.1315+892A>G | |
| ENST00000695972.1:c.1336+892A>G | ENSP00000512299.1:n.1336+892A>G | |
| ENST00000695973.1:c.1336+892A>G | ENSP00000512300.1:n.1336+892A>G | |
| ENST00000695974.1:c.1336+892A>G | ENSP00000512301.1:n.1336+892A>G | |
| ENST00000695975.1:c.1336+892A>G | ENSP00000512302.1:n.1336+892A>G | |
| ENST00000695976.1:c.1147+892A>G | ENSP00000512303.1:n.1147+892A>G | |
| ENST00000695977.1:n.177+892A>G | ||
| ENST00000695978.1:c.1340+888A>G | ENSP00000512304.1:n.1340+888A>G | |
| ENST00000695979.1:c.1315+892A>G | ENSP00000512305.1:n.1315+892A>G | |
| ENST00000695980.1:n.1456+892A>G | ||
| ENST00000695981.1:c.1336+892A>G | ENSP00000512306.1:n.1336+892A>G | |
| ENST00000695983.1:c.1336+892A>G | ENSP00000512308.1:n.1336+892A>G | |
| ENST00000695984.1:c.244+17968A>G | ENSP00000512309.1:n.244+17968A>G | |
| ENST00000695986.1:c.*987+892A>G | ENSP00000512311.1:n.*987+892A>G | |
| ENST00000695987.1:c.1147+892A>G | ENSP00000512312.1:n.1147+892A>G | |
| ENST00000696018.1:n.1420+892A>G | ||
| ENST00000696019.1:n.1420+892A>G | ||
| ENST00000696020.1:n.1420+892A>G | ||
| ENST00000696021.1:n.1399+892A>G | ||
| ENST00000696022.1:n.1424+888A>G | ||
| ENST00000696023.1:c.*19+847A>G | ENSP00000512334.1:n.*19+847A>G | |
| ENST00000696024.1:n.1420+892A>G | ||
| ENST00000696025.1:n.1420+892A>G | ||
| ENST00000696026.1:c.1336+892A>G | ENSP00000512335.1:n.1336+892A>G | |
| ENST00000696027.1:c.1336+892A>G | ENSP00000512336.1:n.1336+892A>G | |
| ENST00000696028.1:c.1336+892A>G | ENSP00000512337.1:n.1336+892A>G | |
| ENST00000696029.1:c.1336+892A>G | ENSP00000512338.1:n.1336+892A>G | |
| ENST00000696030.1:c.1261+892A>G | ENSP00000512339.1:n.1261+892A>G | |
| ENST00000696031.1:c.*854+892A>G | ENSP00000512340.1:n.*854+892A>G | |
| ENST00000696032.1:c.1336+892A>G | ENSP00000512341.1:n.1336+892A>G | |
| ENST00000696033.1:c.1159+1517A>G | ENSP00000512342.1:n.1159+1517A>G | |
| ENST00000367429.9:c.1336+892A>G MANE Select | ENSP00000356399.4:n.1336+892A>G | |
| ENST00000359637.2:c.1144+892A>G | ENSP00000352658.2:n.1144+892A>G | |
| ENST00000367429.8:c.1336+892A>G | ENSP00000356399.4:n.1336+892A>G | |
| ENST00000466229.5:n.3352+892A>G | ||
| ENST00000630130.2:c.1336+892A>G | ENSP00000487250.1:n.1336+892A>G | |
| NM_000186.3:c.1336+892A>G , LRG_47t1:c.1336+892A>G | NP_000177.2:n.1336+892A>G | |
| NM_001014975.2:c.1336+892A>G | NP_001014975.1:n.1336+892A>G | |
| XM_017001108.2:c.1336+892A>G | XP_016856597.1:n.1336+892A>G | |
| XR_001737134.2:n.1421+892A>G | ||
| NM_000186.4:c.1336+892A>G MANE Select | NP_000177.2:n.1336+892A>G | |
| NM_001014975.3:c.1336+892A>G | NP_001014975.1:n.1336+892A>G |