Linked Data
ClinVar Variation Id:
30411
ClinVar RCV Id:
RCV000023364
dbSNP Id:
rs387906884
ExAC:
11:46898045 G / A
gnomAD v2:
11-46898045-G-A
gnomAD v4:
11-46876494-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46876494G>A , CM000673.2:g.46876494G>A | GRCh38 |
| NC_000011.9:g.46898045G>A , CM000673.1:g.46898045G>A | GRCh37 |
| NC_000011.8:g.46854621G>A | NCBI36 |
| NG_021394.1:g.47129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.3508C>T MANE Select | ENSP00000367888.1:p.Arg1170Trp | |
| ENST00000378623.5:c.3508C>T | ENSP00000367888.1:p.Arg1170Trp | |
| NM_002334.3:c.3508C>T | NP_002325.2:p.Arg1170Trp | |
| XM_011520102.1:c.3721C>T | XP_011518404.1:p.Arg1241Trp | |
| XM_011520103.1:c.2704C>T | XP_011518405.1:p.Arg902Trp | |
| XM_011520104.1:c.1273C>T | XP_011518406.1:p.Arg425Trp | |
| XM_011520103.2:c.2704C>T | XP_011518405.1:p.Arg902Trp | |
| XM_011520104.2:c.1273C>T | XP_011518406.1:p.Arg425Trp | |
| XM_017017734.1:c.3508C>T | XP_016873223.1:p.Arg1170Trp | |
| NM_002334.4:c.3508C>T MANE Select | NP_002325.2:p.Arg1170Trp |