Linked Data
ClinVar Variation Id:
353894
ClinVar RCV Id:
RCV000331746
dbSNP Id:
rs563501231
gnomAD v2:
5-53751484-G-A
gnomAD v3:
5-54455654-G-A
gnomAD v4:
5-54455654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54455654G>A , CM000667.2:g.54455654G>A | GRCh38 |
| NC_000005.9:g.53751484G>A , CM000667.1:g.53751484G>A | GRCh37 |
| NC_000005.8:g.53787241G>A | NCBI36 |
| NG_027758.1:g.5054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302005.2:c.-136G>A | ENSP00000303394.1:n.-136G>A | |
| NM_006308.2:c.-136G>A | NP_006299.1:n.-136G>A |