Linked Data
ClinVar Variation Id:
1927589
ClinVar RCV Id:
RCV002609957
dbSNP Id:
rs753297728
ExAC:
11:299472 G / A
gnomAD v2:
11-299472-G-A
gnomAD v3:
11-299472-G-A
gnomAD v4:
11-299472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299472G>A , CM000673.2:g.299472G>A | GRCh38 |
| NC_000011.9:g.299472G>A , CM000673.1:g.299472G>A | GRCh37 |
| NC_000011.8:g.289472G>A | NCBI36 |
| NG_032892.1:g.5055C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.19C>T MANE Select | ENSP00000372059.2:p.Arg7Cys | |
| NM_001025295.2:c.19C>T | NP_001020466.1:p.Arg7Cys | |
| NM_001025295.3:c.19C>T MANE Select | NP_001020466.1:p.Arg7Cys |