Linked Data
ClinVar Variation Id:
21275
dbSNP Id:
rs80338856
ExAC:
11:71150032 G / A
gnomAD v2:
11-71150032-G-A
gnomAD v3:
11-71438986-G-A
gnomAD v4:
11-71438986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71438986G>A , CM000673.2:g.71438986G>A | GRCh38 |
| NC_000011.9:g.71150032G>A , CM000673.1:g.71150032G>A | GRCh37 |
| NC_000011.8:g.70827680G>A | NCBI36 |
| NG_012655.2:g.14446C>T , LRG_340:g.14446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.724C>T | ENSP00000435707.3:p.Arg242Cys | |
| ENST00000526780.6:c.724C>T | ENSP00000435668.2:p.Arg242Cys | |
| ENST00000527316.6:c.550C>T | ENSP00000435047.2:p.Arg184Cys | |
| ENST00000682708.1:c.775C>T | ENSP00000506866.1:p.Arg259Cys | |
| ENST00000682880.1:c.724C>T | ENSP00000507520.1:p.Arg242Cys | |
| ENST00000683287.1:c.760C>T | ENSP00000507607.1:p.Arg254Cys | |
| ENST00000683714.1:c.724C>T | ENSP00000508207.1:p.Arg242Cys | |
| ENST00000684396.1:n.764C>T | ||
| ENST00000685320.1:c.139C>T | ENSP00000509319.1:p.Arg47Cys | |
| ENST00000690257.1:c.628C>T | ENSP00000510750.1:p.Arg210Cys | |
| ENST00000355527.8:c.724C>T MANE Select | ENSP00000347717.4:p.Arg242Cys | |
| ENST00000355527.7:c.724C>T | ENSP00000347717.3:p.Arg242Cys | |
| ENST00000407721.6:c.724C>T | ENSP00000384739.2:p.Arg242Cys | |
| ENST00000525137.1:c.91C>T | ENSP00000435956.1:p.Arg31Cys | |
| ENST00000527316.5:c.628C>T | ENSP00000435047.1:p.Arg210Cys | |
| ENST00000534701.1:n.219C>T | ||
| ENST00000534795.5:c.80C>T | ||
| NM_001163817.1:c.724C>T | NP_001157289.1:p.Arg242Cys | |
| NM_001360.2:c.724C>T , LRG_340t1:c.724C>T | NP_001351.2:p.Arg242Cys | |
| XM_011544777.1:c.724C>T | XP_011543079.1:p.Arg242Cys | |
| XM_011544777.2:c.724C>T | XP_011543079.1:p.Arg242Cys | |
| NM_001163817.2:c.724C>T | NP_001157289.1:p.Arg242Cys | |
| NM_001360.3:c.724C>T MANE Select | NP_001351.2:p.Arg242Cys |