Linked Data
ClinVar Variation Id:
31143
dbSNP Id:
rs267608670
ExAC:
10:79767519 C / T
gnomAD v2:
10-79767519-C-T
gnomAD v3:
10-78007761-C-T
gnomAD v4:
10-78007761-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78007761C>T , CM000672.2:g.78007761C>T | GRCh38 |
| NC_000010.10:g.79767519C>T , CM000672.1:g.79767519C>T | GRCh37 |
| NC_000010.9:g.79437525C>T | NCBI36 |
| NG_029648.1:g.26780G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698727.1:n.1075G>A | ||
| ENST00000698728.1:n.1594G>A | ||
| ENST00000698729.1:n.3140G>A | ||
| ENST00000698730.1:n.3140G>A | ||
| ENST00000698731.1:c.1874G>A | ENSP00000513898.1:p.Gly625Glu | |
| ENST00000698732.1:c.*876G>A | ENSP00000513899.1:n.*876G>A | |
| ENST00000698733.1:c.*1202G>A | ENSP00000513900.1:n.*1202G>A | |
| ENST00000698734.1:c.2015G>A | ENSP00000513901.1:p.Gly672Glu | |
| ENST00000698735.1:n.2130G>A | ||
| ENST00000698736.1:n.2130G>A | ||
| ENST00000698737.1:n.2130G>A | ||
| ENST00000698738.1:n.2130G>A | ||
| ENST00000698739.1:n.2130G>A | ||
| ENST00000372371.8:c.2015G>A MANE Select | ENSP00000361446.3:p.Gly672Glu | |
| ENST00000372371.7:c.2015G>A | ENSP00000361446.3:p.Gly672Glu | |
| ENST00000472014.5:n.237G>A | ||
| ENST00000473588.2:c.678G>A | ||
| NM_007055.3:c.2015G>A | NP_008986.2:p.Gly672Glu | |
| NM_007055.4:c.2015G>A MANE Select | NP_008986.2:p.Gly672Glu |