Linked Data
dbSNP Id:
rs371680052
ExAC:
1:196716472 C / G
gnomAD v2:
1-196716472-C-G
gnomAD v3:
1-196747342-C-G
gnomAD v4:
1-196747342-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747342C>G , CM000663.2:g.196747342C>G | GRCh38 |
| NC_000001.10:g.196716472C>G , CM000663.1:g.196716472C>G | GRCh37 |
| NC_000001.9:g.194983095C>G | NCBI36 |
| NG_007259.1:g.100332C>G , LRG_47:g.100332C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4753C>G | ||
| ENST00000695970.1:c.*29C>G | ENSP00000512297.1:n.*29C>G | |
| ENST00000695971.1:c.*29C>G | ENSP00000512298.1:n.*29C>G | |
| ENST00000695972.1:c.*802C>G | ENSP00000512299.1:n.*802C>G | |
| ENST00000695973.1:c.*2089C>G | ENSP00000512300.1:n.*2089C>G | |
| ENST00000695974.1:c.*29C>G | ENSP00000512301.1:n.*29C>G | |
| ENST00000695975.1:c.*1852C>G | ENSP00000512302.1:n.*1852C>G | |
| ENST00000695976.1:c.*29C>G | ENSP00000512303.1:n.*29C>G | |
| ENST00000695981.1:c.3580+145C>G | ENSP00000512306.1:n.3580+145C>G | |
| ENST00000695984.1:c.*29C>G | ENSP00000512309.1:n.*29C>G | |
| ENST00000695986.1:c.*3376C>G | ENSP00000512311.1:n.*3376C>G | |
| ENST00000695990.1:n.759C>G | ||
| ENST00000696026.1:c.*2007C>G | ENSP00000512335.1:n.*2007C>G | |
| ENST00000696027.1:c.*29C>G | ENSP00000512336.1:n.*29C>G | |
| ENST00000696028.1:c.*29C>G | ENSP00000512337.1:n.*29C>G | |
| ENST00000696029.1:c.*29C>G | ENSP00000512338.1:n.*29C>G | |
| ENST00000696031.1:c.*3243C>G | ENSP00000512340.1:n.*3243C>G | |
| ENST00000696032.1:c.3580+145C>G | ENSP00000512341.1:n.3580+145C>G | |
| ENST00000696033.1:c.1160-32455C>G | ENSP00000512342.1:n.1160-32455C>G | |
| ENST00000367429.9:c.*29C>G MANE Select | ENSP00000356399.4:n.*29C>G | |
| ENST00000367429.8:c.*29C>G | ENSP00000356399.4:n.*29C>G | |
| ENST00000466229.5:n.6823C>G | ||
| NM_000186.3:c.*29C>G , LRG_47t1:c.*29C>G | NP_000177.2:n.*29C>G | |
| XR_001737134.2:n.3911C>G | ||
| NM_000186.4:c.*29C>G MANE Select | NP_000177.2:n.*29C>G |