Linked Data
ClinVar Variation Id:
990075
ClinVar RCV Id:
RCV001278017
dbSNP Id:
rs2077054428
gnomAD v4:
19-11089359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11089359C>T , CM000681.2:g.11089359C>T | GRCh38 |
| NC_000019.9:g.11200035C>T , CM000681.1:g.11200035C>T | GRCh37 |
| NC_000019.8:g.11061035C>T | NCBI36 |
| NG_009060.1:g.4979C>T , LRG_274:g.4979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_163945.1:n.301G>A |