Linked Data
ClinVar Variation Id:
301082
ClinVar RCV Id:
RCV000273370
dbSNP Id:
rs757027564
gnomAD v4:
10-78025609-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78025609C>G , CM000672.2:g.78025609C>G | GRCh38 |
| NC_000010.10:g.79785367C>G , CM000672.1:g.79785367C>G | GRCh37 |
| NC_000010.9:g.79455373C>G | NCBI36 |
| NG_029648.1:g.8932G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698729.1:n.426+13G>C | ||
| ENST00000698730.1:n.426+13G>C | ||
| ENST00000698731.1:c.318+13G>C | ENSP00000513898.1:n.318+13G>C | |
| ENST00000698732.1:c.318+13G>C | ENSP00000513899.1:n.318+13G>C | |
| ENST00000698733.1:c.318+13G>C | ENSP00000513900.1:n.318+13G>C | |
| ENST00000698734.1:c.318+13G>C | ENSP00000513901.1:n.318+13G>C | |
| ENST00000698735.1:n.433+13G>C | ||
| ENST00000698736.1:n.433+13G>C | ||
| ENST00000698737.1:n.433+13G>C | ||
| ENST00000698738.1:n.433+13G>C | ||
| ENST00000698739.1:n.433+13G>C | ||
| ENST00000372371.8:c.318+13G>C MANE Select | ENSP00000361446.3:n.318+13G>C | |
| ENST00000372371.7:c.318+13G>C | ENSP00000361446.3:n.318+13G>C | |
| NM_007055.3:c.318+13G>C | NP_008986.2:n.318+13G>C | |
| NM_007055.4:c.318+13G>C MANE Select | NP_008986.2:n.318+13G>C |