Linked Data
dbSNP Id:
rs370031642
ExAC:
9:34648855 C / T
gnomAD v2:
9-34648855-C-T
gnomAD v4:
9-34648858-C-T
COSMIC:
COSM291134
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648858C>T , CM000671.2:g.34648858C>T | GRCh38 |
| NC_000009.11:g.34648855C>T , CM000671.1:g.34648855C>T | GRCh37 |
| NC_000009.10:g.34638855C>T | NCBI36 |
| NG_009029.1:g.7221C>T | |
| NG_028966.1:g.1674C>T | |
| NG_009029.2:g.7270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*372C>T | ENSP00000509954.1:n.*372C>T | |
| ENST00000378842.8:c.784C>T MANE Select | ENSP00000368119.4:p.Arg262Trp | |
| ENST00000378842.7:c.784C>T | ENSP00000368119.3:p.Arg262Trp | |
| ENST00000450095.6:c.457C>T | ENSP00000401956.2:p.Arg153Trp | |
| ENST00000473506.6:c.*372C>T | ENSP00000432839.2:n.*372C>T | |
| ENST00000489643.6:n.864C>T | ||
| ENST00000554085.5:c.*528C>T | ENSP00000450419.1:n.*528C>T | |
| ENST00000554550.5:c.*404C>T | ENSP00000451435.1:n.*404C>T | |
| ENST00000554638.5:n.1256C>T | ||
| ENST00000555020.5:n.1245C>T | ||
| ENST00000555086.5:n.788C>T | ||
| ENST00000555754.1:n.129C>T | ||
| ENST00000556244.1:c.771C>T | ||
| ENST00000556278.1:c.432+402C>T | ENSP00000451792.1:n.432+402C>T | |
| ENST00000557706.5:n.1346C>T | ||
| NM_000155.3:c.784C>T | NP_000146.2:p.Arg262Trp | |
| NM_001258332.1:c.457C>T | NP_001245261.1:p.Arg153Trp | |
| NM_000155.4:c.784C>T MANE Select | NP_000146.2:p.Arg262Trp | |
| NM_001258332.2:c.457C>T | NP_001245261.1:p.Arg153Trp |