Linked Data
ClinVar Variation Id:
2174465
ClinVar RCV Id:
RCV002587904
dbSNP Id:
rs765154144
ExAC:
11:71146501 G / A
gnomAD v2:
11-71146501-G-A
gnomAD v3:
11-71435455-G-A
gnomAD v4:
11-71435455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435455G>A , CM000673.2:g.71435455G>A | GRCh38 |
| NC_000011.9:g.71146501G>A , CM000673.1:g.71146501G>A | GRCh37 |
| NC_000011.8:g.70824149G>A | NCBI36 |
| NG_012655.2:g.17977C>T , LRG_340:g.17977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1348C>T | ENSP00000435707.3:p.Arg450Cys | |
| ENST00000526780.6:c.1348C>T | ENSP00000435668.2:p.Arg450Cys | |
| ENST00000527316.6:c.1174C>T | ENSP00000435047.2:p.Arg392Cys | |
| ENST00000682708.1:c.1399C>T | ENSP00000506866.1:p.Arg467Cys | |
| ENST00000683287.1:c.1384C>T | ENSP00000507607.1:p.Arg462Cys | |
| ENST00000683714.1:c.*111C>T | ENSP00000508207.1:n.*111C>T | |
| ENST00000684396.1:n.1388C>T | ||
| ENST00000685320.1:c.763C>T | ENSP00000509319.1:p.Arg255Cys | |
| ENST00000690257.1:c.1252C>T | ENSP00000510750.1:p.Arg418Cys | |
| ENST00000355527.8:c.1348C>T MANE Select | ENSP00000347717.4:p.Arg450Cys | |
| ENST00000355527.7:c.1348C>T | ENSP00000347717.3:p.Arg450Cys | |
| ENST00000407721.6:c.1348C>T | ENSP00000384739.2:p.Arg450Cys | |
| ENST00000525137.1:c.849C>T | ENSP00000435956.1:n.849C>T | |
| ENST00000533800.5:c.598C>T | ENSP00000435011.1:p.Arg200Cys | |
| ENST00000534795.5:c.319+2357C>T | ||
| NM_001163817.1:c.1348C>T | NP_001157289.1:p.Arg450Cys | |
| NM_001360.2:c.1348C>T , LRG_340t1:c.1348C>T | NP_001351.2:p.Arg450Cys | |
| XM_011544777.1:c.*111C>T | XP_011543079.1:n.*111C>T | |
| XM_011544777.2:c.*111C>T | XP_011543079.1:n.*111C>T | |
| NM_001163817.2:c.1348C>T | NP_001157289.1:p.Arg450Cys | |
| NM_001360.3:c.1348C>T MANE Select | NP_001351.2:p.Arg450Cys |