Linked Data
ClinVar Variation Id:
488693
ClinVar RCV Id:
RCV000579257
dbSNP Id:
rs368634232
ExAC:
5:53751620 A / G
gnomAD v2:
5-53751620-A-G
gnomAD v3:
5-54455790-A-G
gnomAD v4:
5-54455790-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54455790A>G , CM000667.2:g.54455790A>G | GRCh38 |
| NC_000005.9:g.53751620A>G , CM000667.1:g.53751620A>G | GRCh37 |
| NC_000005.8:g.53787377A>G | NCBI36 |
| NG_027758.1:g.5190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302005.3:c.1A>G MANE Select | ENSP00000303394.1:p.Met1Val | |
| ENST00000302005.2:c.1A>G | ENSP00000303394.1:p.Met1Val | |
| NM_006308.2:c.1A>G | NP_006299.1:p.Met1Val | |
| NM_006308.3:c.1A>G MANE Select | NP_006299.1:p.Met1Val |