Linked Data
ClinVar Variation Id:
854867
ClinVar RCV Id:
RCV002240381
dbSNP Id:
rs752071816
gnomAD v2:
5-151208496-G-A
gnomAD v3:
5-151828935-G-A
gnomAD v4:
5-151828935-G-A
COSMIC:
COSM3852948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151828935G>A , CM000667.2:g.151828935G>A | GRCh38 |
| NC_000005.9:g.151208496G>A , CM000667.1:g.151208496G>A | GRCh37 |
| NC_000005.8:g.151188689G>A | NCBI36 |
| NG_011764.1:g.100902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1045C>T MANE Select | ENSP00000274576.5:p.Arg349Trp | |
| ENST00000274576.8:c.1045C>T | ENSP00000274576.4:p.Arg349Trp | |
| ENST00000455880.2:c.1045C>T | ENSP00000411593.2:p.Arg349Trp | |
| ENST00000462581.6:c.*803C>T | ENSP00000430595.1:n.*803C>T | |
| NM_000171.3:c.1045C>T | NP_000162.2:p.Arg349Trp | |
| NM_001146040.1:c.1045C>T | NP_001139512.1:p.Arg349Trp | |
| NM_001292000.1:c.796C>T | NP_001278929.1:p.Arg266Trp | |
| NM_000171.4:c.1045C>T MANE Select | NP_000162.2:p.Arg349Trp | |
| NM_001146040.2:c.1045C>T | NP_001139512.1:p.Arg349Trp | |
| NM_001292000.2:c.796C>T | NP_001278929.1:p.Arg266Trp |