Linked Data
dbSNP Id:
rs545440059
ExAC:
3:129249919 C / G
gnomAD v2:
3-129249919-C-G
gnomAD v4:
3-129531076-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531076C>G , CM000665.2:g.129531076C>G | GRCh38 |
| NC_000003.11:g.129249919C>G , CM000665.1:g.129249919C>G | GRCh37 |
| NC_000003.10:g.130732609C>G | NCBI36 |
| NG_009115.1:g.7438C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.530+32C>G MANE Select | ENSP00000296271.3:n.530+32C>G | |
| ENST00000296271.3:c.530+32C>G | ENSP00000296271.3:n.530+32C>G | |
| NM_000539.3:c.530+32C>G MANE Select | NP_000530.1:n.530+32C>G |