Linked Data
ClinVar Variation Id:
38330
ClinVar RCV Id:
RCV000031888
dbSNP Id:
rs281864917
PubMed:
PMID:20301437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851501C>G , CM000667.2:g.151851501C>G | GRCh38 |
| NC_000005.9:g.151231062C>G , CM000667.1:g.151231062C>G | GRCh37 |
| NC_000005.8:g.151211255C>G | NCBI36 |
| NG_011764.1:g.78336G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.801G>C MANE Select | ENSP00000274576.5:p.Trp267Cys | |
| ENST00000274576.8:c.801G>C | ENSP00000274576.4:p.Trp267Cys | |
| ENST00000455880.2:c.801G>C | ENSP00000411593.2:p.Trp267Cys | |
| ENST00000462581.6:c.*559G>C | ENSP00000430595.1:n.*559G>C | |
| ENST00000471351.2:n.1084G>C | ||
| NM_000171.3:c.801G>C | NP_000162.2:p.Trp267Cys | |
| NM_001146040.1:c.801G>C | NP_001139512.1:p.Trp267Cys | |
| NM_001292000.1:c.552G>C | NP_001278929.1:p.Trp184Cys | |
| XM_005268412.2:c.801G>C | XP_005268469.1:p.Trp267Cys | |
| NM_000171.4:c.801G>C MANE Select | NP_000162.2:p.Trp267Cys | |
| NM_001146040.2:c.801G>C | NP_001139512.1:p.Trp267Cys | |
| NM_001292000.2:c.552G>C | NP_001278929.1:p.Trp184Cys |