gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92580651 (EAS)
Genomes Max Group AF
0.92580651 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196704863A>C , CM000663.2:g.196704863A>C | GRCh38 |
| NC_000001.10:g.196673993A>C , CM000663.1:g.196673993A>C | GRCh37 |
| NC_000001.9:g.194940616A>C | NCBI36 |
| NG_007259.1:g.57853A>C , LRG_47:g.57853A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.1603-8872A>C | ||
| ENST00000695969.1:c.1337-8872A>C | ENSP00000512296.1:n.1337-8872A>C | |
| ENST00000695970.1:c.1337-8872A>C | ENSP00000512297.1:n.1337-8872A>C | |
| ENST00000695971.1:c.1316-8872A>C | ENSP00000512298.1:n.1316-8872A>C | |
| ENST00000695972.1:c.1337-8872A>C | ENSP00000512299.1:n.1337-8872A>C | |
| ENST00000695973.1:c.1337-8872A>C | ENSP00000512300.1:n.1337-8872A>C | |
| ENST00000695974.1:c.1337-8872A>C | ENSP00000512301.1:n.1337-8872A>C | |
| ENST00000695975.1:c.1337-8872A>C | ENSP00000512302.1:n.1337-8872A>C | |
| ENST00000695976.1:c.1148-8872A>C | ENSP00000512303.1:n.1148-8872A>C | |
| ENST00000695980.1:n.1457-1115A>C | ||
| ENST00000695981.1:c.1337-8872A>C | ENSP00000512306.1:n.1337-8872A>C | |
| ENST00000695983.1:c.1337-8872A>C | ENSP00000512308.1:n.1337-8872A>C | |
| ENST00000695984.1:c.245-23483A>C | ENSP00000512309.1:n.245-23483A>C | |
| ENST00000695986.1:c.*988-8872A>C | ENSP00000512311.1:n.*988-8872A>C | |
| ENST00000696024.1:n.1421-8872A>C | ||
| ENST00000696025.1:n.1421-8872A>C | ||
| ENST00000696026.1:c.1337-8872A>C | ENSP00000512335.1:n.1337-8872A>C | |
| ENST00000696027.1:c.1337-8872A>C | ENSP00000512336.1:n.1337-8872A>C | |
| ENST00000696028.1:c.1337-8872A>C | ENSP00000512337.1:n.1337-8872A>C | |
| ENST00000696029.1:c.1337-8872A>C | ENSP00000512338.1:n.1337-8872A>C | |
| ENST00000696031.1:c.*855-8872A>C | ENSP00000512340.1:n.*855-8872A>C | |
| ENST00000696032.1:c.1337-8872A>C | ENSP00000512341.1:n.1337-8872A>C | |
| ENST00000696033.1:c.1159+15249A>C | ENSP00000512342.1:n.1159+15249A>C | |
| ENST00000367429.9:c.1337-8872A>C MANE Select | ENSP00000356399.4:n.1337-8872A>C | |
| ENST00000367429.8:c.1337-8872A>C | ENSP00000356399.4:n.1337-8872A>C | |
| ENST00000466229.5:n.3353-8872A>C | ||
| NM_000186.3:c.1337-8872A>C , LRG_47t1:c.1337-8872A>C | NP_000177.2:n.1337-8872A>C | |
| XR_001737134.2:n.1422-8872A>C | ||
| NM_000186.4:c.1337-8872A>C MANE Select | NP_000177.2:n.1337-8872A>C |