Linked Data
ClinVar Variation Id:
1553617
ClinVar RCV Id:
RCV002180575
dbSNP Id:
rs748670529
ExAC:
12:12871260 T / TA
gnomAD v2:
12-12871260-T-TA
gnomAD v3:
12-12718326-T-TA
gnomAD v4:
12-12718326-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718326_12718327insA , CM000674.2:g.12718326_12718327insA | GRCh38 |
| NC_000012.11:g.12871260_12871261insA , CM000674.1:g.12871260_12871261insA | GRCh37 |
| NC_000012.10:g.12762527_12762528insA | NCBI36 |
| NG_016341.1:g.5959_5960insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.475+12_475+13insA | ENSP00000507272.1:n.475+12_475+13insA | |
| ENST00000682620.1:n.1631-499_1631-498insA | ||
| ENST00000684771.1:n.585-499_585-498insA | ||
| ENST00000228872.9:c.475+12_475+13insA MANE Select | ENSP00000228872.4:n.475+12_475+13insA | |
| ENST00000228872.8:c.475+12_475+13insA | ENSP00000228872.4:n.475+12_475+13insA | |
| ENST00000396340.1:c.475+12_475+13insA | ENSP00000379629.1:n.475+12_475+13insA | |
| ENST00000442489.1:c.193+273_193+274insA | ENSP00000407597.1:n.193+273_193+274insA | |
| ENST00000477087.1:n.155-499_155-498insA | ||
| NM_004064.4:c.475+12_475+13insA | NP_004055.1:n.475+12_475+13insA | |
| NM_004064.5:c.475+12_475+13insA MANE Select | NP_004055.1:n.475+12_475+13insA |