Linked Data
dbSNP Id:
rs772230128
ExAC:
8:19809376 C / T
gnomAD v2:
8-19809376-C-T
gnomAD v3:
8-19951865-C-T
gnomAD v4:
8-19951865-C-T
COSMIC:
COSM4441050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951865C>T , CM000670.2:g.19951865C>T | GRCh38 |
| NC_000008.10:g.19809376C>T , CM000670.1:g.19809376C>T | GRCh37 |
| NC_000008.9:g.19853656C>T | NCBI36 |
| NG_008855.1:g.17795C>T | |
| NG_008855.2:g.55149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.346C>T MANE Select | ENSP00000497642.1:p.Arg116Trp | |
| ENST00000311322.8:c.346C>T | ENSP00000309757.6:p.Arg116Trp | |
| ENST00000520959.5:c.118C>T | ENSP00000428496.1:p.Arg40Trp | |
| ENST00000524029.5:c.346C>T | ENSP00000428237.1:p.Arg116Trp | |
| NM_000237.2:c.346C>T | NP_000228.1:p.Arg116Trp | |
| NM_000237.3:c.346C>T MANE Select | NP_000228.1:p.Arg116Trp |