Linked Data
ClinVar Variation Id:
1638119
ClinVar RCV Id:
RCV002137984
dbSNP Id:
rs369287528
ExAC:
10:79740036 G / A
gnomAD v2:
10-79740036-G-A
gnomAD v3:
10-77980278-G-A
gnomAD v4:
10-77980278-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77980278G>A , CM000672.2:g.77980278G>A | GRCh38 |
| NC_000010.10:g.79740036G>A , CM000672.1:g.79740036G>A | GRCh37 |
| NC_000010.9:g.79410042G>A | NCBI36 |
| NG_029648.1:g.54263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698724.1:n.1809-5C>T | ||
| ENST00000698725.1:n.1557C>T | ||
| ENST00000698726.1:n.3122-5C>T | ||
| ENST00000698727.1:n.2855-5C>T | ||
| ENST00000698728.1:n.3471-5C>T | ||
| ENST00000698729.1:n.4919-5C>T | ||
| ENST00000698730.1:n.5017-5C>T | ||
| ENST00000698731.1:c.3751-5C>T | ENSP00000513898.1:n.3751-5C>T | |
| ENST00000698732.1:c.*2581-5C>T | ENSP00000513899.1:n.*2581-5C>T | |
| ENST00000698733.1:c.*3079-5C>T | ENSP00000513900.1:n.*3079-5C>T | |
| ENST00000698734.1:c.*2065-5C>T | ENSP00000513901.1:n.*2065-5C>T | |
| ENST00000698735.1:n.4243-5C>T | ||
| ENST00000698736.1:n.4656-5C>T | ||
| ENST00000698737.1:n.4007-5C>T | ||
| ENST00000372371.8:c.3892-5C>T MANE Select | ENSP00000361446.3:n.3892-5C>T | |
| ENST00000372371.7:c.3892-5C>T | ENSP00000361446.3:n.3892-5C>T | |
| ENST00000616246.4:c.340-5C>T | ENSP00000483738.1:n.340-5C>T | |
| NM_007055.3:c.3892-5C>T | NP_008986.2:n.3892-5C>T | |
| NM_007055.4:c.3892-5C>T MANE Select | NP_008986.2:n.3892-5C>T |