Linked Data
ClinVar Variation Id:
5935
ClinVar RCV Id:
RCV000006298
dbSNP Id:
rs104893730
gnomAD v4:
3-190404786-T-G
PubMed:
PMID:10878661
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404786T>G , CM000665.2:g.190404786T>G | GRCh38 |
| NC_000003.11:g.190122575T>G , CM000665.1:g.190122575T>G | GRCh37 |
| NC_000003.10:g.191605269T>G | NCBI36 |
| NG_008149.1:g.21735T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.242T>G MANE Select | ENSP00000264734.3:p.Leu81Trp | |
| ENST00000456423.2:c.115-5117T>G | ENSP00000414136.2:n.115-5117T>G | |
| ENST00000264734.2:c.452T>G | ENSP00000264734.2:p.Leu151Trp | |
| ENST00000456423.1:c.325-5117T>G | ENSP00000414136.1:n.325-5117T>G | |
| ENST00000468220.1:n.434T>G | ||
| NM_006580.3:c.452T>G | NP_006571.1:p.Leu151Trp | |
| NM_001378492.1:c.242T>G | NP_001365421.1:p.Leu81Trp | |
| NM_001378493.1:c.242T>G | NP_001365422.1:p.Leu81Trp | |
| NM_006580.4:c.242T>G MANE Select | NP_006571.2:p.Leu81Trp |