Linked Data
ClinVar Variation Id:
596851
ClinVar RCV Id:
RCV001844232
dbSNP Id:
rs201150384
ExAC:
11:71146443 C / T
gnomAD v2:
11-71146443-C-T
gnomAD v3:
11-71435397-C-T
gnomAD v4:
11-71435397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435397C>T , CM000673.2:g.71435397C>T | GRCh38 |
| NC_000011.9:g.71146443C>T , CM000673.1:g.71146443C>T | GRCh37 |
| NC_000011.8:g.70824091C>T | NCBI36 |
| NG_012655.2:g.18035G>A , LRG_340:g.18035G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.1406G>A | ENSP00000435707.3:p.Arg469His | |
| ENST00000526780.6:c.1406G>A | ENSP00000435668.2:p.Arg469His | |
| ENST00000527316.6:c.1232G>A | ENSP00000435047.2:p.Arg411His | |
| ENST00000682708.1:c.1457G>A | ENSP00000506866.1:p.Arg486His | |
| ENST00000683287.1:c.1442G>A | ENSP00000507607.1:p.Arg481His | |
| ENST00000683714.1:c.*169G>A | ENSP00000508207.1:n.*169G>A | |
| ENST00000684396.1:n.1446G>A | ||
| ENST00000685320.1:c.821G>A | ENSP00000509319.1:p.Arg274His | |
| ENST00000690257.1:c.1310G>A | ENSP00000510750.1:p.Arg437His | |
| ENST00000355527.8:c.1406G>A MANE Select | ENSP00000347717.4:p.Arg469His | |
| ENST00000355527.7:c.1406G>A | ENSP00000347717.3:p.Arg469His | |
| ENST00000407721.6:c.1406G>A | ENSP00000384739.2:p.Arg469His | |
| ENST00000525137.1:c.907G>A | ENSP00000435956.1:n.907G>A | |
| ENST00000533800.5:c.611+45G>A | ENSP00000435011.1:n.611+45G>A | |
| ENST00000534795.5:c.319+2415G>A | ||
| NM_001163817.1:c.1406G>A | NP_001157289.1:p.Arg469His | |
| NM_001360.2:c.1406G>A , LRG_340t1:c.1406G>A | NP_001351.2:p.Arg469His | |
| XM_011544777.1:c.*169G>A | XP_011543079.1:n.*169G>A | |
| XM_011544777.2:c.*169G>A | XP_011543079.1:n.*169G>A | |
| NM_001163817.2:c.1406G>A | NP_001157289.1:p.Arg469His | |
| NM_001360.3:c.1406G>A MANE Select | NP_001351.2:p.Arg469His |