Linked Data
dbSNP Id:
rs1460283484
gnomAD v3:
1-196747246-G-A
gnomAD v4:
1-196747246-G-A
COSMIC:
COSM4026522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747246G>A , CM000663.2:g.196747246G>A | GRCh38 |
| NC_000001.10:g.196716376G>A , CM000663.1:g.196716376G>A | GRCh37 |
| NC_000001.9:g.194982999G>A | NCBI36 |
| NG_007259.1:g.100236G>A , LRG_47:g.100236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4657G>A | ||
| ENST00000695970.1:c.3455G>A | ENSP00000512297.1:p.Arg1152His | |
| ENST00000695971.1:c.3608G>A | ENSP00000512298.1:p.Arg1203His | |
| ENST00000695972.1:c.*706G>A | ENSP00000512299.1:n.*706G>A | |
| ENST00000695973.1:c.*1993G>A | ENSP00000512300.1:n.*1993G>A | |
| ENST00000695974.1:c.3452G>A | ENSP00000512301.1:p.Arg1151His | |
| ENST00000695975.1:c.*1756G>A | ENSP00000512302.1:n.*1756G>A | |
| ENST00000695976.1:c.3440G>A | ENSP00000512303.1:p.Arg1147His | |
| ENST00000695981.1:c.3580+49G>A | ENSP00000512306.1:n.3580+49G>A | |
| ENST00000695984.1:c.1637G>A | ENSP00000512309.1:p.Arg546His | |
| ENST00000695986.1:c.*3280G>A | ENSP00000512311.1:n.*3280G>A | |
| ENST00000695990.1:n.663G>A | ||
| ENST00000696026.1:c.*1911G>A | ENSP00000512335.1:n.*1911G>A | |
| ENST00000696027.1:c.3623G>A | ENSP00000512336.1:p.Arg1208His | |
| ENST00000696028.1:c.3557G>A | ENSP00000512337.1:p.Arg1186His | |
| ENST00000696029.1:c.3623G>A | ENSP00000512338.1:p.Arg1208His | |
| ENST00000696031.1:c.*3147G>A | ENSP00000512340.1:n.*3147G>A | |
| ENST00000696032.1:c.3580+49G>A | ENSP00000512341.1:n.3580+49G>A | |
| ENST00000696033.1:c.1160-32551G>A | ENSP00000512342.1:n.1160-32551G>A | |
| ENST00000367429.9:c.3629G>A MANE Select | ENSP00000356399.4:p.Arg1210His | |
| ENST00000367429.8:c.3629G>A | ENSP00000356399.4:p.Arg1210His | |
| ENST00000466229.5:n.6727G>A | ||
| NM_000186.3:c.3629G>A , LRG_47t1:c.3629G>A | NP_000177.2:p.Arg1210His | |
| XR_001737134.2:n.3815G>A | ||
| NM_000186.4:c.3629G>A MANE Select | NP_000177.2:p.Arg1210His |