gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54149053 (SAS)
Genomes Max Group AF
0.54149053 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196726031C>T , CM000663.2:g.196726031C>T | GRCh38 |
| NC_000001.10:g.196695161C>T , CM000663.1:g.196695161C>T | GRCh37 |
| NC_000001.9:g.194961784C>T | NCBI36 |
| NG_007259.1:g.79021C>T , LRG_47:g.79021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.2140-439C>T | ||
| ENST00000695969.1:c.1874-439C>T | ENSP00000512296.1:n.1874-439C>T | |
| ENST00000695970.1:c.1874-439C>T | ENSP00000512297.1:n.1874-439C>T | |
| ENST00000695971.1:c.1853-439C>T | ENSP00000512298.1:n.1853-439C>T | |
| ENST00000695972.1:c.1874-439C>T | ENSP00000512299.1:n.1874-439C>T | |
| ENST00000695973.1:c.*238-439C>T | ENSP00000512300.1:n.*238-439C>T | |
| ENST00000695974.1:c.1697-439C>T | ENSP00000512301.1:n.1697-439C>T | |
| ENST00000695975.1:c.1874-425C>T | ENSP00000512302.1:n.1874-425C>T | |
| ENST00000695976.1:c.1685-439C>T | ENSP00000512303.1:n.1685-439C>T | |
| ENST00000695981.1:c.1874-439C>T | ENSP00000512306.1:n.1874-439C>T | |
| ENST00000695983.1:c.1874-439C>T | ENSP00000512308.1:n.1874-439C>T | |
| ENST00000695984.1:c.245-2315C>T | ENSP00000512309.1:n.245-2315C>T | |
| ENST00000695986.1:c.*1525-439C>T | ENSP00000512311.1:n.*1525-439C>T | |
| ENST00000696025.1:n.1958-439C>T | ||
| ENST00000696026.1:c.*156-439C>T | ENSP00000512335.1:n.*156-439C>T | |
| ENST00000696027.1:c.1874-439C>T | ENSP00000512336.1:n.1874-439C>T | |
| ENST00000696028.1:c.1874-439C>T | ENSP00000512337.1:n.1874-439C>T | |
| ENST00000696029.1:c.1874-439C>T | ENSP00000512338.1:n.1874-439C>T | |
| ENST00000696031.1:c.*1392-439C>T | ENSP00000512340.1:n.*1392-439C>T | |
| ENST00000696032.1:c.1874-439C>T | ENSP00000512341.1:n.1874-439C>T | |
| ENST00000696033.1:c.1159+36417C>T | ENSP00000512342.1:n.1159+36417C>T | |
| ENST00000367429.9:c.1874-439C>T MANE Select | ENSP00000356399.4:n.1874-439C>T | |
| ENST00000367429.8:c.1874-439C>T | ENSP00000356399.4:n.1874-439C>T | |
| ENST00000466229.5:n.3890-439C>T | ||
| NM_000186.3:c.1874-439C>T , LRG_47t1:c.1874-439C>T | NP_000177.2:n.1874-439C>T | |
| XR_001737134.2:n.2060-439C>T | ||
| NM_000186.4:c.1874-439C>T MANE Select | NP_000177.2:n.1874-439C>T |