Linked Data
ClinVar Variation Id:
3071820
ClinVar RCV Id:
RCV004016314
dbSNP Id:
rs879254360
gnomAD v4:
19-11089334-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089334A>T , CM000681.2:g.11089334A>T | GRCh38 |
| NC_000019.9:g.11200010A>T , CM000681.1:g.11200010A>T | GRCh37 |
| NC_000019.8:g.11061010A>T | NCBI36 |
| NG_009060.1:g.4954A>T , LRG_274:g.4954A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.326T>A |