Linked Data
dbSNP Id:
rs2087403303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413629C>G , CM000665.2:g.147413629C>G | GRCh38 |
| NC_000003.11:g.147131416C>G , CM000665.1:g.147131416C>G | GRCh37 |
| NC_000003.10:g.148614106C>G | NCBI36 |
| NG_015886.1:g.9236C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.*78C>G MANE Select | ENSP00000282928.4:n.*78C>G | |
| ENST00000282928.4:c.*78C>G | ENSP00000282928.4:n.*78C>G | |
| ENST00000472523.1:n.521+19687C>G | ||
| ENST00000488404.5:c.488C>G | ||
| NM_003412.3:c.*78C>G | NP_003403.2:n.*78C>G | |
| NM_003412.4:c.*78C>G MANE Select | NP_003403.2:n.*78C>G |