Linked Data
ClinVar Variation Id:
488166
ClinVar RCV Id:
RCV000578115
RCV000578039
RCV001091428
RCV000577961
RCV001239106
RCV002222557
RCV002404582
dbSNP Id:
rs191525506
ExAC:
12:112926959 C / T
gnomAD v2:
12-112926959-C-T
gnomAD v3:
12-112489155-C-T
gnomAD v4:
12-112489155-C-T
COSMIC:
COSM935284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489155C>T , CM000674.2:g.112489155C>T | GRCh38 |
| NC_000012.11:g.112926959C>T , CM000674.1:g.112926959C>T | GRCh37 |
| NC_000012.10:g.111411342C>T | NCBI36 |
| NG_007459.1:g.75424C>T , LRG_614:g.75424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1579C>T | ENSP00000491593.2:p.Arg527Cys | |
| ENST00000685487.1:c.1579C>T | ENSP00000508503.1:p.Arg527Cys | |
| ENST00000687624.1:n.244C>T | ||
| ENST00000687906.1:c.1465C>T | ENSP00000509536.1:p.Arg489Cys | |
| ENST00000688597.1:c.1224+6950C>T | ENSP00000510628.1:n.1224+6950C>T | |
| ENST00000688701.1:n.823C>T | ||
| ENST00000690210.1:c.1579C>T | ENSP00000509272.1:p.Arg527Cys | |
| ENST00000690472.1:n.788C>T | ||
| ENST00000692624.1:c.*125C>T | ENSP00000508953.1:n.*125C>T | |
| ENST00000351677.7:c.1579C>T MANE Select | ENSP00000340944.3:p.Arg527Cys | |
| ENST00000351677.6:c.1579C>T | ENSP00000340944.2:p.Arg527Cys | |
| ENST00000635625.1:c.1591C>T | ENSP00000489597.1:p.Arg531Cys | |
| NM_002834.3:c.1579C>T , LRG_614t1:c.1579C>T | NP_002825.3:p.Arg527Cys | |
| XM_006719526.1:c.1591C>T | XP_006719589.1:p.Arg531Cys | |
| XM_006719527.1:c.1477C>T | XP_006719590.1:p.Arg493Cys | |
| XM_011538613.1:c.1588C>T | XP_011536915.1:p.Arg530Cys | |
| NM_001330437.1:c.1591C>T | NP_001317366.1:p.Arg531Cys | |
| NM_002834.4:c.1579C>T | NP_002825.3:p.Arg527Cys | |
| XM_011538613.2:c.1588C>T | XP_011536915.1:p.Arg530Cys | |
| XM_017019722.1:c.1576C>T | XP_016875211.1:p.Arg526Cys | |
| NM_001330437.2:c.1591C>T | NP_001317366.1:p.Arg531Cys | |
| NM_001374625.1:c.1576C>T | NP_001361554.1:p.Arg526Cys | |
| NM_002834.5:c.1579C>T MANE Select | NP_002825.3:p.Arg527Cys |