Linked Data
ClinVar Variation Id:
527
ClinVar RCV Id:
RCV000000556
dbSNP Id:
rs28931602
PubMed:
PMID:10797416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335543A>C , CM000667.2:g.128335543A>C | GRCh38 |
| NC_000005.9:g.127671235A>C , CM000667.1:g.127671235A>C | GRCh37 |
| NC_000005.8:g.127699134A>C | NCBI36 |
| NG_008750.1:g.207501T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.543T>G | ||
| ENST00000703785.1:n.624T>G | ||
| ENST00000262464.9:c.3759T>G MANE Select | ENSP00000262464.4:p.Cys1253Trp | |
| ENST00000262464.8:c.3759T>G | ENSP00000262464.4:p.Cys1253Trp | |
| ENST00000507835.5:c.309T>G | ENSP00000426839.1:p.Cys103Trp | |
| ENST00000508053.5:c.3759T>G | ENSP00000424571.1:p.Cys1253Trp | |
| ENST00000508989.5:c.3660T>G | ENSP00000425596.1:p.Cys1220Trp | |
| ENST00000619499.4:c.3756T>G | ENSP00000482132.1:p.Cys1252Trp | |
| NM_001999.3:c.3759T>G | NP_001990.2:p.Cys1253Trp | |
| XM_017009228.2:c.3606T>G | XP_016864717.1:p.Cys1202Trp | |
| NM_001999.4:c.3759T>G MANE Select | NP_001990.2:p.Cys1253Trp |