Linked Data
ClinVar Variation Id:
360324
ClinVar RCV Id:
RCV000864134
dbSNP Id:
rs775865217
ExAC:
7:4825322 C / T
gnomAD v2:
7-4825322-C-T
gnomAD v3:
7-4785691-C-T
gnomAD v4:
7-4785691-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4785691C>T , CM000669.2:g.4785691C>T | GRCh38 |
| NC_000007.13:g.4825322C>T , CM000669.1:g.4825322C>T | GRCh37 |
| NC_000007.12:g.4791848C>T | NCBI36 |
| NG_028111.1:g.15061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.890+7C>T | ||
| ENST00000496303.6:n.960+7C>T | ||
| ENST00000647628.1:n.623+7C>T | ||
| ENST00000647984.1:c.*477+7C>T | ENSP00000497794.1:n.*477+7C>T | |
| ENST00000648925.1:c.1132+7C>T | ENSP00000496830.1:n.1132+7C>T | |
| ENST00000649063.2:c.1132+7C>T MANE Select | ENSP00000497815.1:n.1132+7C>T | |
| ENST00000649315.1:c.342+7C>T | ||
| ENST00000649419.1:n.415C>T | ||
| ENST00000650310.1:c.1132+7C>T | ENSP00000497395.1:n.1132+7C>T | |
| ENST00000348624.4:c.1132+7C>T | ENSP00000297562.4:n.1132+7C>T | |
| ENST00000477680.5:n.890+7C>T | ||
| ENST00000496303.5:n.1196+7C>T | ||
| NM_014855.2:c.1132+7C>T | NP_055670.1:n.1132+7C>T | |
| XR_242109.1:n.1157+7C>T | ||
| NM_001364858.1:c.664+7C>T | NP_001351787.1:n.664+7C>T | |
| NM_014855.3:c.1132+7C>T MANE Select | NP_055670.1:n.1132+7C>T | |
| NR_157345.1:n.1225+7C>T |