Linked Data
dbSNP Id:
rs776876434
ExAC:
10:135345593 C / A
gnomAD v2:
10-135345593-C-A
gnomAD v3:
10-133532089-C-A
gnomAD v4:
10-133532089-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133532089C>A , CM000672.2:g.133532089C>A | GRCh38 |
| NC_000010.10:g.135345593C>A , CM000672.1:g.135345593C>A | GRCh37 |
| NC_000010.9:g.135195583C>A | NCBI36 |
| NG_008383.1:g.9727C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252945.8:c.488-35C>A MANE Select | ENSP00000252945.3:n.488-35C>A | |
| ENST00000252945.7:c.488-35C>A | ENSP00000252945.3:n.488-35C>A | |
| ENST00000368520.1:n.514C>A | ||
| ENST00000418356.1:c.77-35C>A | ENSP00000397299.1:n.77-35C>A | |
| ENST00000421586.5:c.227-35C>A | ENSP00000412754.1:n.227-35C>A | |
| ENST00000463117.6:c.488-35C>A | ENSP00000440689.1:n.488-35C>A | |
| ENST00000477500.5:n.448+355C>A | ||
| ENST00000480558.1:n.713-35C>A | ||
| ENST00000541080.5:c.226+355C>A | ||
| NM_000773.3:c.488-35C>A | NP_000764.1:n.488-35C>A | |
| NM_000773.4:c.488-35C>A MANE Select | NP_000764.1:n.488-35C>A |