Linked Data
ClinVar Variation Id:
417771
ClinVar RCV Id:
RCV000477726
dbSNP Id:
rs1085307117
PubMed:
PMID:24784932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230690119T>G , CM000663.2:g.230690119T>G | GRCh38 |
| NC_000001.10:g.230825865T>G , CM000663.1:g.230825865T>G | GRCh37 |
| NC_000001.9:g.228892488T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1900T>G MANE Select | ENSP00000355629.4:p.Trp634Gly | |
| ENST00000366668.7:c.1897T>G | ENSP00000355628.3:p.Trp633Gly | |
| ENST00000366669.8:c.1900T>G | ENSP00000355629.4:p.Trp634Gly | |
| ENST00000468893.6:c.*1758T>G | ENSP00000476305.1:n.*1758T>G | |
| ENST00000478710.1:n.159T>G | ||
| ENST00000490900.1:n.679T>G | ||
| ENST00000534989.1:c.1723T>G | ENSP00000440349.1:p.Trp575Gly | |
| NM_001145036.1:c.1897T>G | NP_001138508.1:p.Trp633Gly | |
| NM_007357.2:c.1900T>G | NP_031383.1:p.Trp634Gly | |
| NM_007357.3:c.1900T>G MANE Select | NP_031383.1:p.Trp634Gly | |
| NM_001145036.2:c.1897T>G | NP_001138508.1:p.Trp633Gly |