Linked Data
ClinVar Variation Id:
301020
dbSNP Id:
rs186927032
gnomAD v2:
10-79736423-T-C
gnomAD v3:
10-77976665-T-C
gnomAD v4:
10-77976665-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77976665T>C , CM000672.2:g.77976665T>C | GRCh38 |
| NC_000010.10:g.79736423T>C , CM000672.1:g.79736423T>C | GRCh37 |
| NC_000010.9:g.79406429T>C | NCBI36 |
| NG_029648.1:g.57876A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698724.1:n.1941+3476A>G | ||
| ENST00000698725.1:n.2656A>G | ||
| ENST00000698726.1:n.4216A>G | ||
| ENST00000698727.1:n.3949A>G | ||
| ENST00000698728.1:n.4565A>G | ||
| ENST00000698729.1:n.6013A>G | ||
| ENST00000698730.1:n.6111A>G | ||
| ENST00000698731.1:c.*813A>G | ENSP00000513898.1:n.*813A>G | |
| ENST00000698732.1:c.*3675A>G | ENSP00000513899.1:n.*3675A>G | |
| ENST00000698733.1:c.*4173A>G | ENSP00000513900.1:n.*4173A>G | |
| ENST00000698734.1:c.*3159A>G | ENSP00000513901.1:n.*3159A>G | |
| ENST00000698735.1:n.5337A>G | ||
| ENST00000698736.1:n.5750A>G | ||
| ENST00000372371.8:c.*813A>G MANE Select | ENSP00000361446.3:n.*813A>G | |
| ENST00000372371.7:c.*813A>G | ENSP00000361446.3:n.*813A>G | |
| ENST00000616246.4:c.472+3476A>G | ENSP00000483738.1:n.472+3476A>G | |
| NM_007055.3:c.*813A>G | NP_008986.2:n.*813A>G | |
| NM_007055.4:c.*813A>G MANE Select | NP_008986.2:n.*813A>G |