Linked Data
ClinVar Variation Id:
2151986
ClinVar RCV Id:
RCV003061549
dbSNP Id:
rs753280668
ExAC:
4:68606401 G / A
gnomAD v2:
4-68606401-G-A
gnomAD v3:
4-67740683-G-A
gnomAD v4:
4-67740683-G-A
COSMIC:
COSM1430602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740683G>A , CM000666.2:g.67740683G>A | GRCh38 |
| NC_000004.11:g.68606401G>A , CM000666.1:g.68606401G>A | GRCh37 |
| NC_000004.10:g.68288996G>A | NCBI36 |
| NG_009293.1:g.20404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.784C>T MANE Select | ENSP00000226413.5:p.Arg262Trp | |
| ENST00000226413.4:c.784C>T | ENSP00000226413.4:p.Arg262Trp | |
| ENST00000420975.2:c.656C>T | ENSP00000397561.2:p.Thr219Met | |
| NM_000406.2:c.784C>T | NP_000397.1:p.Arg262Trp | |
| NM_001012763.1:c.656C>T | NP_001012781.1:p.Thr219Met | |
| NM_000406.3:c.784C>T MANE Select | NP_000397.1:p.Arg262Trp | |
| NM_001012763.2:c.656C>T | NP_001012781.1:p.Thr219Met |