Linked Data
ClinVar Variation Id:
304870
ClinVar RCV Id:
RCV000338690
dbSNP Id:
rs886048351
gnomAD v4:
11-46876530-G-A
COSMIC:
COSM4698907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46876530G>A , CM000673.2:g.46876530G>A | GRCh38 |
| NC_000011.9:g.46898081G>A , CM000673.1:g.46898081G>A | GRCh37 |
| NC_000011.8:g.46854657G>A | NCBI36 |
| NG_021394.1:g.47093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3472C>T MANE Select | ENSP00000367888.1:p.Arg1158Trp | |
| ENST00000378623.5:c.3472C>T | ENSP00000367888.1:p.Arg1158Trp | |
| NM_002334.3:c.3472C>T | NP_002325.2:p.Arg1158Trp | |
| XM_011520102.1:c.3685C>T | XP_011518404.1:p.Arg1229Trp | |
| XM_011520103.1:c.2668C>T | XP_011518405.1:p.Arg890Trp | |
| XM_011520104.1:c.1237C>T | XP_011518406.1:p.Arg413Trp | |
| XM_011520103.2:c.2668C>T | XP_011518405.1:p.Arg890Trp | |
| XM_011520104.2:c.1237C>T | XP_011518406.1:p.Arg413Trp | |
| XM_017017734.1:c.3472C>T | XP_016873223.1:p.Arg1158Trp | |
| NM_002334.4:c.3472C>T MANE Select | NP_002325.2:p.Arg1158Trp |