Linked Data
ClinVar Variation Id:
412229
dbSNP Id:
rs141607676
ExAC:
7:4827929 C / T
gnomAD v2:
7-4827929-C-T
gnomAD v3:
7-4788298-C-T
gnomAD v4:
7-4788298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4788298C>T , CM000669.2:g.4788298C>T | GRCh38 |
| NC_000007.13:g.4827929C>T , CM000669.1:g.4827929C>T | GRCh37 |
| NC_000007.12:g.4794455C>T | NCBI36 |
| NG_028111.1:g.17668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1353+4C>T | ||
| ENST00000496303.6:n.1423+4C>T | ||
| ENST00000647984.1:c.*940+4C>T | ENSP00000497794.1:n.*940+4C>T | |
| ENST00000648360.1:c.205+4C>T | ||
| ENST00000648925.1:c.1595+4C>T | ENSP00000496830.1:n.1595+4C>T | |
| ENST00000649063.2:c.1595+4C>T MANE Select | ENSP00000497815.1:n.1595+4C>T | |
| ENST00000649315.1:c.1092+4C>T | ||
| ENST00000649419.1:n.1474+4C>T | ||
| ENST00000649736.1:n.458+4C>T | ||
| ENST00000650310.1:c.*166+4C>T | ENSP00000497395.1:n.*166+4C>T | |
| ENST00000650581.1:c.397+4C>T | ||
| ENST00000348624.4:c.1595+4C>T | ENSP00000297562.4:n.1595+4C>T | |
| ENST00000469614.1:n.73C>T | ||
| ENST00000477454.1:n.376+4C>T | ||
| ENST00000477680.5:n.1353+4C>T | ||
| ENST00000496303.5:n.1659+4C>T | ||
| NM_014855.2:c.1595+4C>T | NP_055670.1:n.1595+4C>T | |
| XR_242109.1:n.1658+4C>T | ||
| NM_001364858.1:c.1127+4C>T | NP_001351787.1:n.1127+4C>T | |
| NM_014855.3:c.1595+4C>T MANE Select | NP_055670.1:n.1595+4C>T | |
| NR_157345.1:n.1726+4C>T |