Linked Data
ClinVar Variation Id:
558558
dbSNP Id:
rs542266962
gnomAD v2:
11-71146500-C-T
gnomAD v3:
11-71435454-C-T
gnomAD v4:
11-71435454-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435454C>T , CM000673.2:g.71435454C>T | GRCh38 |
| NC_000011.9:g.71146500C>T , CM000673.1:g.71146500C>T | GRCh37 |
| NC_000011.8:g.70824148C>T | NCBI36 |
| NG_012655.2:g.17978G>A , LRG_340:g.17978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1349G>A | ENSP00000435707.3:p.Arg450His | |
| ENST00000526780.6:c.1349G>A | ENSP00000435668.2:p.Arg450His | |
| ENST00000527316.6:c.1175G>A | ENSP00000435047.2:p.Arg392His | |
| ENST00000682708.1:c.1400G>A | ENSP00000506866.1:p.Arg467His | |
| ENST00000683287.1:c.1385G>A | ENSP00000507607.1:p.Arg462His | |
| ENST00000683714.1:c.*112G>A | ENSP00000508207.1:n.*112G>A | |
| ENST00000684396.1:n.1389G>A | ||
| ENST00000685320.1:c.764G>A | ENSP00000509319.1:p.Arg255His | |
| ENST00000690257.1:c.1253G>A | ENSP00000510750.1:p.Arg418His | |
| ENST00000355527.8:c.1349G>A MANE Select | ENSP00000347717.4:p.Arg450His | |
| ENST00000355527.7:c.1349G>A | ENSP00000347717.3:p.Arg450His | |
| ENST00000407721.6:c.1349G>A | ENSP00000384739.2:p.Arg450His | |
| ENST00000525137.1:c.850G>A | ENSP00000435956.1:n.850G>A | |
| ENST00000533800.5:c.599G>A | ENSP00000435011.1:p.Arg200His | |
| ENST00000534795.5:c.319+2358G>A | ||
| NM_001163817.1:c.1349G>A | NP_001157289.1:p.Arg450His | |
| NM_001360.2:c.1349G>A , LRG_340t1:c.1349G>A | NP_001351.2:p.Arg450His | |
| XM_011544777.1:c.*112G>A | XP_011543079.1:n.*112G>A | |
| XM_011544777.2:c.*112G>A | XP_011543079.1:n.*112G>A | |
| NM_001163817.2:c.1349G>A | NP_001157289.1:p.Arg450His | |
| NM_001360.3:c.1349G>A MANE Select | NP_001351.2:p.Arg450His |