Linked Data
ClinVar Variation Id:
3141275
ClinVar RCV Id:
RCV004428131
dbSNP Id:
rs777193983
ExAC:
20:60503451 C / T
gnomAD v2:
20-60503451-C-T
gnomAD v3:
20-61928393-C-T
gnomAD v4:
20-61928393-C-T
COSMIC:
COSM5707503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928393C>T , CM000682.2:g.61928393C>T | GRCh38 |
| NC_000020.10:g.60503451C>T , CM000682.1:g.60503451C>T | GRCh37 |
| NC_000020.9:g.59936846C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1975C>T MANE Select | ENSP00000484928.1:p.Arg659Trp | |
| ENST00000543233.2:c.1753C>T | ENSP00000443301.1:p.Arg585Trp | |
| ENST00000611855.4:c.1693C>T | ENSP00000480844.1:p.Arg565Trp | |
| ENST00000614565.4:c.1975C>T | ENSP00000484928.1:p.Arg659Trp | |
| NM_001252338.2:c.1864C>T | NP_001239267.1:p.Arg622Trp | |
| NM_001252339.2:c.1753C>T | NP_001239268.1:p.Arg585Trp | |
| NM_001794.4:c.1975C>T | NP_001785.2:p.Arg659Trp | |
| NM_001794.5:c.1975C>T MANE Select | NP_001785.2:p.Arg659Trp | |
| NM_001252339.3:c.1753C>T | NP_001239268.1:p.Arg585Trp |