Linked Data
ClinVar Variation Id:
379250
dbSNP Id:
rs1057520542
gnomAD v2:
12-8757904-G-A
gnomAD v3:
12-8605308-G-A
gnomAD v4:
12-8605308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8605308G>A , CM000674.2:g.8605308G>A | GRCh38 |
| NC_000012.11:g.8757904G>A , CM000674.1:g.8757904G>A | GRCh37 |
| NC_000012.10:g.8649171G>A | NCBI36 |
| NG_011588.1:g.12539C>T , LRG_17:g.12539C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.334C>T | ENSP00000445691.1:p.Arg112Cys | |
| ENST00000543081.6:c.334C>T | ENSP00000439103.2:p.Arg112Cys | |
| ENST00000544516.6:c.157-971C>T | ENSP00000439538.2:n.157-971C>T | |
| ENST00000545576.2:n.443C>T | ||
| ENST00000696246.1:c.319C>T | ENSP00000512504.1:p.Arg107Cys | |
| ENST00000696271.1:n.454C>T | ||
| ENST00000696272.1:c.319C>T | ENSP00000512515.1:p.Arg107Cys | |
| ENST00000696273.1:c.367C>T | ENSP00000512516.1:p.Arg123Cys | |
| ENST00000229335.11:c.334C>T MANE Select | ENSP00000229335.6:p.Arg112Cys | |
| ENST00000229335.10:c.334C>T | ENSP00000229335.6:p.Arg112Cys | |
| ENST00000537228.5:c.334C>T | ENSP00000445691.1:p.Arg112Cys | |
| ENST00000543081.5:c.330C>T | ||
| ENST00000544516.5:c.153-971C>T | ||
| ENST00000545512.1:c.330C>T | ||
| ENST00000545576.1:n.368C>T | ||
| NM_020661.2:c.334C>T , LRG_17t1:c.334C>T | NP_065712.1:p.Arg112Cys | |
| XM_011520772.1:c.334C>T | XP_011519074.1:p.Arg112Cys | |
| XM_011520773.1:c.334C>T | XP_011519075.1:p.Arg112Cys | |
| NM_001330343.1:c.334C>T | NP_001317272.1:p.Arg112Cys | |
| NM_020661.3:c.334C>T | NP_065712.1:p.Arg112Cys | |
| XM_011520773.2:c.334C>T | XP_011519075.1:p.Arg112Cys | |
| NM_020661.4:c.334C>T MANE Select | NP_065712.1:p.Arg112Cys | |
| NM_001330343.2:c.334C>T | NP_001317272.1:p.Arg112Cys |