Linked Data
ClinVar Variation Id:
418361
dbSNP Id:
rs1064793206
gnomAD v4:
14-23424993-G-A
COSMIC:
COSM5722172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424993G>A , CM000676.2:g.23424993G>A | GRCh38 |
| NC_000014.8:g.23894202G>A , CM000676.1:g.23894202G>A | GRCh37 |
| NC_000014.7:g.22964042G>A | NCBI36 |
| NG_007884.1:g.15669C>T , LRG_384:g.15669C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.2455C>T MANE Select | ENSP00000347507.3:p.Arg819Trp | |
| ENST00000355349.3:c.2455C>T | ENSP00000347507.3:p.Arg819Trp | |
| NM_000257.3:c.2455C>T | NP_000248.2:p.Arg819Trp | |
| XR_245686.3:n.2561C>T | ||
| XM_017021340.1:c.2455C>T | XP_016876829.1:p.Arg819Trp | |
| NM_000257.4:c.2455C>T MANE Select | NP_000248.2:p.Arg819Trp |