Linked Data
dbSNP Id:
rs1442482770
gnomAD v2:
1-196716441-T-C
gnomAD v3:
1-196747311-T-C
gnomAD v4:
1-196747311-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747311T>C , CM000663.2:g.196747311T>C | GRCh38 |
| NC_000001.10:g.196716441T>C , CM000663.1:g.196716441T>C | GRCh37 |
| NC_000001.9:g.194983064T>C | NCBI36 |
| NG_007259.1:g.100301T>C , LRG_47:g.100301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4722T>C | ||
| ENST00000695970.1:c.3520T>C | ENSP00000512297.1:p.Ter1174Gln | |
| ENST00000695971.1:c.3673T>C | ENSP00000512298.1:p.Ter1225Gln | |
| ENST00000695972.1:c.*771T>C | ENSP00000512299.1:n.*771T>C | |
| ENST00000695973.1:c.*2058T>C | ENSP00000512300.1:n.*2058T>C | |
| ENST00000695974.1:c.3517T>C | ENSP00000512301.1:p.Ter1173Gln | |
| ENST00000695975.1:c.*1821T>C | ENSP00000512302.1:n.*1821T>C | |
| ENST00000695976.1:c.3505T>C | ENSP00000512303.1:p.Ter1169Gln | |
| ENST00000695981.1:c.3580+114T>C | ENSP00000512306.1:n.3580+114T>C | |
| ENST00000695984.1:c.1702T>C | ENSP00000512309.1:p.Ter568Gln | |
| ENST00000695986.1:c.*3345T>C | ENSP00000512311.1:n.*3345T>C | |
| ENST00000695990.1:n.728T>C | ||
| ENST00000696026.1:c.*1976T>C | ENSP00000512335.1:n.*1976T>C | |
| ENST00000696027.1:c.3688T>C | ENSP00000512336.1:p.Ter1230Gln | |
| ENST00000696028.1:c.3622T>C | ENSP00000512337.1:p.Ter1208Gln | |
| ENST00000696029.1:c.3688T>C | ENSP00000512338.1:p.Ter1230Gln | |
| ENST00000696031.1:c.*3212T>C | ENSP00000512340.1:n.*3212T>C | |
| ENST00000696032.1:c.3580+114T>C | ENSP00000512341.1:n.3580+114T>C | |
| ENST00000696033.1:c.1160-32486T>C | ENSP00000512342.1:n.1160-32486T>C | |
| ENST00000367429.9:c.3694T>C MANE Select | ENSP00000356399.4:p.Ter1232Gln | |
| ENST00000367429.8:c.3694T>C | ENSP00000356399.4:p.Ter1232Gln | |
| ENST00000466229.5:n.6792T>C | ||
| NM_000186.3:c.3694T>C , LRG_47t1:c.3694T>C | NP_000177.2:p.Ter1232Gln | |
| XR_001737134.2:n.3880T>C | ||
| NM_000186.4:c.3694T>C MANE Select | NP_000177.2:p.Ter1232Gln |