Linked Data
ClinVar Variation Id:
3230721
ClinVar RCV Id:
RCV004522836
dbSNP Id:
rs376875031
ExAC:
8:19809439 C / T
gnomAD v2:
8-19809439-C-T
gnomAD v3:
8-19951928-C-T
gnomAD v4:
8-19951928-C-T
COSMIC:
COSM3898683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951928C>T , CM000670.2:g.19951928C>T | GRCh38 |
| NC_000008.10:g.19809439C>T , CM000670.1:g.19809439C>T | GRCh37 |
| NC_000008.9:g.19853719C>T | NCBI36 |
| NG_008855.1:g.17858C>T | |
| NG_008855.2:g.55212C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.409C>T MANE Select | ENSP00000497642.1:p.Arg137Trp | |
| ENST00000311322.8:c.409C>T | ENSP00000309757.6:p.Arg137Trp | |
| ENST00000520959.5:c.181C>T | ENSP00000428496.1:p.Arg61Trp | |
| NM_000237.2:c.409C>T | NP_000228.1:p.Arg137Trp | |
| NM_000237.3:c.409C>T MANE Select | NP_000228.1:p.Arg137Trp |