Linked Data
ClinVar Variation Id:
18285
ClinVar RCV Id:
RCV000019947
dbSNP Id:
rs121909525
PubMed:
PMID:11333380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431994C>A , CM000663.2:g.229431994C>A | GRCh38 |
| NC_000001.10:g.229567741C>A , CM000663.1:g.229567741C>A | GRCh37 |
| NC_000001.9:g.227634364C>A | NCBI36 |
| NG_006672.1:g.7103G>T , LRG_429:g.7103G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.808G>T | ENSP00000355644.4:p.Gly270Cys | |
| ENST00000684723.1:c.673G>T | ENSP00000508084.1:p.Gly225Cys | |
| ENST00000366683.3:c.480-132G>T | ENSP00000355644.3:n.480-132G>T | |
| ENST00000366684.7:c.808G>T MANE Select | ENSP00000355645.3:p.Gly270Cys | |
| NM_001100.3:c.808G>T , LRG_429t1:c.808G>T | NP_001091.1:p.Gly270Cys | |
| NM_001100.4:c.808G>T MANE Select | NP_001091.1:p.Gly270Cys |