Linked Data
ClinVar Variation Id:
9860
ClinVar RCV Id:
RCV000010535
dbSNP Id:
rs137852601
PubMed:
PMID:15001585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717526C>G , CM000685.2:g.67717526C>G | GRCh38 |
| NC_000023.10:g.66937368C>G , CM000685.1:g.66937368C>G | GRCh37 |
| NC_000023.9:g.66854093C>G | NCBI36 |
| NG_009014.2:g.178495C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*570C>G | ENSP00000379358.4:n.*570C>G | |
| ENST00000374690.9:c.2222C>G MANE Select | ENSP00000363822.3:p.Ser741Cys | |
| ENST00000396043.3:c.849C>G | ENSP00000379358.3:n.849C>G | |
| ENST00000396044.8:c.2173+5837C>G | ENSP00000379359.3:n.2173+5837C>G | |
| ENST00000612452.5:c.2222C>G | ENSP00000484033.2:p.Ser741Cys | |
| ENST00000374690.7:c.2222C>G | ENSP00000363822.3:p.Ser741Cys | |
| ENST00000396043.2:c.626C>G | ENSP00000379358.2:p.Ser209Cys | |
| ENST00000396044.7:c.2173+5837C>G | ENSP00000379359.3:n.2173+5837C>G | |
| ENST00000612452.4:c.1652C>G | ENSP00000484033.1:p.Ser551Cys | |
| NM_000044.3:c.2222C>G | NP_000035.2:p.Ser741Cys | |
| NM_001011645.2:c.626C>G | NP_001011645.1:p.Ser209Cys | |
| NM_000044.4:c.2222C>G | NP_000035.2:p.Ser741Cys | |
| NM_001011645.3:c.626C>G | NP_001011645.1:p.Ser209Cys | |
| NM_000044.6:c.2222C>G MANE Select | NP_000035.2:p.Ser741Cys |