Linked Data
dbSNP Id:
rs45439493
gnomAD v2:
10-79769544-G-A
gnomAD v3:
10-78009786-G-A
gnomAD v4:
10-78009786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009786G>A , CM000672.2:g.78009786G>A | GRCh38 |
| NC_000010.10:g.79769544G>A , CM000672.1:g.79769544G>A | GRCh37 |
| NC_000010.9:g.79439550G>A | NCBI36 |
| NG_029648.1:g.24755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1349+78C>T | ||
| ENST00000698729.1:n.2895+78C>T | ||
| ENST00000698730.1:n.2895+78C>T | ||
| ENST00000698731.1:c.1629+78C>T | ENSP00000513898.1:n.1629+78C>T | |
| ENST00000698732.1:c.*631+78C>T | ENSP00000513899.1:n.*631+78C>T | |
| ENST00000698733.1:c.*957+78C>T | ENSP00000513900.1:n.*957+78C>T | |
| ENST00000698734.1:c.1770+78C>T | ENSP00000513901.1:n.1770+78C>T | |
| ENST00000698735.1:n.1885+78C>T | ||
| ENST00000698736.1:n.1885+78C>T | ||
| ENST00000698737.1:n.1885+78C>T | ||
| ENST00000698738.1:n.1885+78C>T | ||
| ENST00000698739.1:n.1885+78C>T | ||
| ENST00000372371.8:c.1770+78C>T MANE Select | ENSP00000361446.3:n.1770+78C>T | |
| ENST00000372371.7:c.1770+78C>T | ENSP00000361446.3:n.1770+78C>T | |
| ENST00000473588.2:c.572+78C>T | ||
| NM_007055.3:c.1770+78C>T | NP_008986.2:n.1770+78C>T | |
| NM_007055.4:c.1770+78C>T MANE Select | NP_008986.2:n.1770+78C>T |