Linked Data
dbSNP Id:
rs766943022
ExAC:
11:71146680 T / C
gnomAD v2:
11-71146680-T-C
gnomAD v4:
11-71435634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435634T>C , CM000673.2:g.71435634T>C | GRCh38 |
| NC_000011.9:g.71146680T>C , CM000673.1:g.71146680T>C | GRCh37 |
| NC_000011.8:g.70824328T>C | NCBI36 |
| NG_012655.2:g.17798A>G , LRG_340:g.17798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1169A>G | ENSP00000435707.3:p.His390Arg | |
| ENST00000526780.6:c.1169A>G | ENSP00000435668.2:p.His390Arg | |
| ENST00000527316.6:c.995A>G | ENSP00000435047.2:p.His332Arg | |
| ENST00000682708.1:c.1220A>G | ENSP00000506866.1:p.His407Arg | |
| ENST00000683287.1:c.1205A>G | ENSP00000507607.1:p.His402Arg | |
| ENST00000683714.1:c.1177A>G | ENSP00000508207.1:p.Thr393Ala | |
| ENST00000684396.1:n.1209A>G | ||
| ENST00000685320.1:c.584A>G | ENSP00000509319.1:p.His195Arg | |
| ENST00000690257.1:c.1073A>G | ENSP00000510750.1:p.His358Arg | |
| ENST00000355527.8:c.1169A>G MANE Select | ENSP00000347717.4:p.His390Arg | |
| ENST00000355527.7:c.1169A>G | ENSP00000347717.3:p.His390Arg | |
| ENST00000407721.6:c.1169A>G | ENSP00000384739.2:p.His390Arg | |
| ENST00000525137.1:c.670A>G | ENSP00000435956.1:p.Thr224Ala | |
| ENST00000533800.5:c.419A>G | ENSP00000435011.1:p.His140Arg | |
| ENST00000534795.5:c.319+2178A>G | ||
| NM_001163817.1:c.1169A>G | NP_001157289.1:p.His390Arg | |
| NM_001360.2:c.1169A>G , LRG_340t1:c.1169A>G | NP_001351.2:p.His390Arg | |
| XM_011544777.1:c.1303A>G | XP_011543079.1:p.Thr435Ala | |
| XM_011544777.2:c.1303A>G | XP_011543079.1:p.Thr435Ala | |
| NM_001163817.2:c.1169A>G | NP_001157289.1:p.His390Arg | |
| NM_001360.3:c.1169A>G MANE Select | NP_001351.2:p.His390Arg |