Linked Data
ClinVar Variation Id:
575323
ClinVar RCV Id:
RCV002233641
dbSNP Id:
rs776919102
ExAC:
5:151231142 G / A
gnomAD v2:
5-151231142-G-A
gnomAD v4:
5-151851581-G-A
COSMIC:
COSM1064659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851581G>A , CM000667.2:g.151851581G>A | GRCh38 |
| NC_000005.9:g.151231142G>A , CM000667.1:g.151231142G>A | GRCh37 |
| NC_000005.8:g.151211335G>A | NCBI36 |
| NG_011764.1:g.78256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.721C>T MANE Select | ENSP00000274576.5:p.Arg241Trp | |
| ENST00000274576.8:c.721C>T | ENSP00000274576.4:p.Arg241Trp | |
| ENST00000455880.2:c.721C>T | ENSP00000411593.2:p.Arg241Trp | |
| ENST00000462581.6:c.*479C>T | ENSP00000430595.1:n.*479C>T | |
| ENST00000471351.2:n.1004C>T | ||
| NM_000171.3:c.721C>T | NP_000162.2:p.Arg241Trp | |
| NM_001146040.1:c.721C>T | NP_001139512.1:p.Arg241Trp | |
| NM_001292000.1:c.472C>T | NP_001278929.1:p.Arg158Trp | |
| XM_005268412.2:c.721C>T | XP_005268469.1:p.Arg241Trp | |
| NM_000171.4:c.721C>T MANE Select | NP_000162.2:p.Arg241Trp | |
| NM_001146040.2:c.721C>T | NP_001139512.1:p.Arg241Trp | |
| NM_001292000.2:c.472C>T | NP_001278929.1:p.Arg158Trp |