Linked Data
dbSNP Id:
rs748464244
ExAC:
1:196716406 A / G
gnomAD v2:
1-196716406-A-G
gnomAD v3:
1-196747276-A-G
gnomAD v4:
1-196747276-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747276A>G , CM000663.2:g.196747276A>G | GRCh38 |
| NC_000001.10:g.196716406A>G , CM000663.1:g.196716406A>G | GRCh37 |
| NC_000001.9:g.194983029A>G | NCBI36 |
| NG_007259.1:g.100266A>G , LRG_47:g.100266A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4687A>G | ||
| ENST00000695970.1:c.3485A>G | ENSP00000512297.1:p.Asp1162Gly | |
| ENST00000695971.1:c.3638A>G | ENSP00000512298.1:p.Asp1213Gly | |
| ENST00000695972.1:c.*736A>G | ENSP00000512299.1:n.*736A>G | |
| ENST00000695973.1:c.*2023A>G | ENSP00000512300.1:n.*2023A>G | |
| ENST00000695974.1:c.3482A>G | ENSP00000512301.1:p.Asp1161Gly | |
| ENST00000695975.1:c.*1786A>G | ENSP00000512302.1:n.*1786A>G | |
| ENST00000695976.1:c.3470A>G | ENSP00000512303.1:p.Asp1157Gly | |
| ENST00000695981.1:c.3580+79A>G | ENSP00000512306.1:n.3580+79A>G | |
| ENST00000695984.1:c.1667A>G | ENSP00000512309.1:p.Asp556Gly | |
| ENST00000695986.1:c.*3310A>G | ENSP00000512311.1:n.*3310A>G | |
| ENST00000695990.1:n.693A>G | ||
| ENST00000696026.1:c.*1941A>G | ENSP00000512335.1:n.*1941A>G | |
| ENST00000696027.1:c.3653A>G | ENSP00000512336.1:p.Asp1218Gly | |
| ENST00000696028.1:c.3587A>G | ENSP00000512337.1:p.Asp1196Gly | |
| ENST00000696029.1:c.3653A>G | ENSP00000512338.1:p.Asp1218Gly | |
| ENST00000696031.1:c.*3177A>G | ENSP00000512340.1:n.*3177A>G | |
| ENST00000696032.1:c.3580+79A>G | ENSP00000512341.1:n.3580+79A>G | |
| ENST00000696033.1:c.1160-32521A>G | ENSP00000512342.1:n.1160-32521A>G | |
| ENST00000367429.9:c.3659A>G MANE Select | ENSP00000356399.4:p.Asp1220Gly | |
| ENST00000367429.8:c.3659A>G | ENSP00000356399.4:p.Asp1220Gly | |
| ENST00000466229.5:n.6757A>G | ||
| NM_000186.3:c.3659A>G , LRG_47t1:c.3659A>G | NP_000177.2:p.Asp1220Gly | |
| XR_001737134.2:n.3845A>G | ||
| NM_000186.4:c.3659A>G MANE Select | NP_000177.2:p.Asp1220Gly |