Linked Data
ClinVar Variation Id:
13611
ClinVar RCV Id:
RCV000014581
dbSNP Id:
rs104893758
ExAC:
3:87311248 A / G
gnomAD v2:
3-87311248-A-G
gnomAD v4:
3-87262098-A-G
PubMed:
PMID:11297581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262098A>G , CM000665.2:g.87262098A>G | GRCh38 |
| NC_000003.11:g.87311248A>G , CM000665.1:g.87311248A>G | GRCh37 |
| NC_000003.10:g.87393938A>G | NCBI36 |
| NG_008225.2:g.19490T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344265.8:c.655T>C | ENSP00000342931.3:p.Trp219Arg | |
| ENST00000350375.7:c.577T>C MANE Select | ENSP00000263781.2:p.Trp193Arg | |
| ENST00000344265.7:c.655T>C | ENSP00000342931.3:p.Trp219Arg | |
| ENST00000350375.6:c.577T>C | ENSP00000263781.2:p.Trp193Arg | |
| ENST00000560656.1:c.440-1994T>C | ENSP00000452610.1:n.440-1994T>C | |
| ENST00000561167.5:c.352T>C | ENSP00000454072.1:p.Trp118Arg | |
| NM_000306.3:c.577T>C | NP_000297.1:p.Trp193Arg | |
| NM_001122757.2:c.655T>C | NP_001116229.1:p.Trp219Arg | |
| NM_000306.4:c.577T>C MANE Select | NP_000297.1:p.Trp193Arg | |
| NM_001122757.3:c.655T>C | NP_001116229.1:p.Trp219Arg |