Linked Data
ClinVar Variation Id:
1184031
ClinVar RCV Id:
RCV001541984
dbSNP Id:
rs1847450791
gnomAD v4:
10-78009976-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009976G>A , CM000672.2:g.78009976G>A | GRCh38 |
| NC_000010.10:g.79769734G>A , CM000672.1:g.79769734G>A | GRCh37 |
| NC_000010.9:g.79439740G>A | NCBI36 |
| NG_029648.1:g.24565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1237C>T | ||
| ENST00000698729.1:n.2783C>T | ||
| ENST00000698730.1:n.2783C>T | ||
| ENST00000698731.1:c.1517C>T | ENSP00000513898.1:p.Thr506Ile | |
| ENST00000698732.1:c.*519C>T | ENSP00000513899.1:n.*519C>T | |
| ENST00000698733.1:c.*845C>T | ENSP00000513900.1:n.*845C>T | |
| ENST00000698734.1:c.1658C>T | ENSP00000513901.1:p.Thr553Ile | |
| ENST00000698735.1:n.1773C>T | ||
| ENST00000698736.1:n.1773C>T | ||
| ENST00000698737.1:n.1773C>T | ||
| ENST00000698738.1:n.1773C>T | ||
| ENST00000698739.1:n.1773C>T | ||
| ENST00000372371.8:c.1658C>T MANE Select | ENSP00000361446.3:p.Thr553Ile | |
| ENST00000372371.7:c.1658C>T | ENSP00000361446.3:p.Thr553Ile | |
| ENST00000473588.2:c.460C>T | ||
| NM_007055.3:c.1658C>T | NP_008986.2:p.Thr553Ile | |
| NM_007055.4:c.1658C>T MANE Select | NP_008986.2:p.Thr553Ile |