Linked Data
dbSNP Id:
rs1010660677
gnomAD v2:
1-196695209-A-G
gnomAD v3:
1-196726079-A-G
gnomAD v4:
1-196726079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196726079A>G , CM000663.2:g.196726079A>G | GRCh38 |
| NC_000001.10:g.196695209A>G , CM000663.1:g.196695209A>G | GRCh37 |
| NC_000001.9:g.194961832A>G | NCBI36 |
| NG_007259.1:g.79069A>G , LRG_47:g.79069A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.2140-391A>G | ||
| ENST00000695969.1:c.1874-391A>G | ENSP00000512296.1:n.1874-391A>G | |
| ENST00000695970.1:c.1874-391A>G | ENSP00000512297.1:n.1874-391A>G | |
| ENST00000695971.1:c.1853-391A>G | ENSP00000512298.1:n.1853-391A>G | |
| ENST00000695972.1:c.1874-391A>G | ENSP00000512299.1:n.1874-391A>G | |
| ENST00000695973.1:c.*238-391A>G | ENSP00000512300.1:n.*238-391A>G | |
| ENST00000695974.1:c.1697-391A>G | ENSP00000512301.1:n.1697-391A>G | |
| ENST00000695975.1:c.1874-377A>G | ENSP00000512302.1:n.1874-377A>G | |
| ENST00000695976.1:c.1685-391A>G | ENSP00000512303.1:n.1685-391A>G | |
| ENST00000695981.1:c.1874-391A>G | ENSP00000512306.1:n.1874-391A>G | |
| ENST00000695983.1:c.1874-391A>G | ENSP00000512308.1:n.1874-391A>G | |
| ENST00000695984.1:c.245-2267A>G | ENSP00000512309.1:n.245-2267A>G | |
| ENST00000695986.1:c.*1525-391A>G | ENSP00000512311.1:n.*1525-391A>G | |
| ENST00000696025.1:n.1958-391A>G | ||
| ENST00000696026.1:c.*156-391A>G | ENSP00000512335.1:n.*156-391A>G | |
| ENST00000696027.1:c.1874-391A>G | ENSP00000512336.1:n.1874-391A>G | |
| ENST00000696028.1:c.1874-391A>G | ENSP00000512337.1:n.1874-391A>G | |
| ENST00000696029.1:c.1874-391A>G | ENSP00000512338.1:n.1874-391A>G | |
| ENST00000696031.1:c.*1392-391A>G | ENSP00000512340.1:n.*1392-391A>G | |
| ENST00000696032.1:c.1874-391A>G | ENSP00000512341.1:n.1874-391A>G | |
| ENST00000696033.1:c.1159+36465A>G | ENSP00000512342.1:n.1159+36465A>G | |
| ENST00000367429.9:c.1874-391A>G MANE Select | ENSP00000356399.4:n.1874-391A>G | |
| ENST00000367429.8:c.1874-391A>G | ENSP00000356399.4:n.1874-391A>G | |
| ENST00000466229.5:n.3890-391A>G | ||
| NM_000186.3:c.1874-391A>G , LRG_47t1:c.1874-391A>G | NP_000177.2:n.1874-391A>G | |
| XR_001737134.2:n.2060-391A>G | ||
| NM_000186.4:c.1874-391A>G MANE Select | NP_000177.2:n.1874-391A>G |