Linked Data
dbSNP Id:
rs768787918
ExAC:
1:196716392 A / T
gnomAD v2:
1-196716392-A-T
gnomAD v3:
1-196747262-A-T
gnomAD v4:
1-196747262-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747262A>T , CM000663.2:g.196747262A>T | GRCh38 |
| NC_000001.10:g.196716392A>T , CM000663.1:g.196716392A>T | GRCh37 |
| NC_000001.9:g.194983015A>T | NCBI36 |
| NG_007259.1:g.100252A>T , LRG_47:g.100252A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4673A>T | ||
| ENST00000695970.1:c.3471A>T | ENSP00000512297.1:p.Arg1157= | |
| ENST00000695971.1:c.3624A>T | ENSP00000512298.1:p.Arg1208= | |
| ENST00000695972.1:c.*722A>T | ENSP00000512299.1:n.*722A>T | |
| ENST00000695973.1:c.*2009A>T | ENSP00000512300.1:n.*2009A>T | |
| ENST00000695974.1:c.3468A>T | ENSP00000512301.1:p.Arg1156= | |
| ENST00000695975.1:c.*1772A>T | ENSP00000512302.1:n.*1772A>T | |
| ENST00000695976.1:c.3456A>T | ENSP00000512303.1:p.Arg1152= | |
| ENST00000695981.1:c.3580+65A>T | ENSP00000512306.1:n.3580+65A>T | |
| ENST00000695984.1:c.1653A>T | ENSP00000512309.1:p.Arg551= | |
| ENST00000695986.1:c.*3296A>T | ENSP00000512311.1:n.*3296A>T | |
| ENST00000695990.1:n.679A>T | ||
| ENST00000696026.1:c.*1927A>T | ENSP00000512335.1:n.*1927A>T | |
| ENST00000696027.1:c.3639A>T | ENSP00000512336.1:p.Arg1213= | |
| ENST00000696028.1:c.3573A>T | ENSP00000512337.1:p.Arg1191= | |
| ENST00000696029.1:c.3639A>T | ENSP00000512338.1:p.Arg1213= | |
| ENST00000696031.1:c.*3163A>T | ENSP00000512340.1:n.*3163A>T | |
| ENST00000696032.1:c.3580+65A>T | ENSP00000512341.1:n.3580+65A>T | |
| ENST00000696033.1:c.1160-32535A>T | ENSP00000512342.1:n.1160-32535A>T | |
| ENST00000367429.9:c.3645A>T MANE Select | ENSP00000356399.4:p.Arg1215= | |
| ENST00000367429.8:c.3645A>T | ENSP00000356399.4:p.Arg1215= | |
| ENST00000466229.5:n.6743A>T | ||
| NM_000186.3:c.3645A>T , LRG_47t1:c.3645A>T | NP_000177.2:p.Arg1215= | |
| XR_001737134.2:n.3831A>T | ||
| NM_000186.4:c.3645A>T MANE Select | NP_000177.2:p.Arg1215= |