Linked Data
ClinVar Variation Id:
301062
dbSNP Id:
rs562035665
ExAC:
10:79767503 T / C
gnomAD v2:
10-79767503-T-C
gnomAD v3:
10-78007745-T-C
gnomAD v4:
10-78007745-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78007745T>C , CM000672.2:g.78007745T>C | GRCh38 |
| NC_000010.10:g.79767503T>C , CM000672.1:g.79767503T>C | GRCh37 |
| NC_000010.9:g.79437509T>C | NCBI36 |
| NG_029648.1:g.26796A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698727.1:n.1091A>G | ||
| ENST00000698728.1:n.1610A>G | ||
| ENST00000698729.1:n.3156A>G | ||
| ENST00000698730.1:n.3156A>G | ||
| ENST00000698731.1:c.1890A>G | ENSP00000513898.1:p.Ala630= | |
| ENST00000698732.1:c.*892A>G | ENSP00000513899.1:n.*892A>G | |
| ENST00000698733.1:c.*1218A>G | ENSP00000513900.1:n.*1218A>G | |
| ENST00000698734.1:c.2031A>G | ENSP00000513901.1:p.Ala677= | |
| ENST00000698735.1:n.2146A>G | ||
| ENST00000698736.1:n.2146A>G | ||
| ENST00000698737.1:n.2146A>G | ||
| ENST00000698738.1:n.2146A>G | ||
| ENST00000698739.1:n.2146A>G | ||
| ENST00000372371.8:c.2031A>G MANE Select | ENSP00000361446.3:p.Ala677= | |
| ENST00000372371.7:c.2031A>G | ENSP00000361446.3:p.Ala677= | |
| ENST00000472014.5:n.253A>G | ||
| ENST00000473588.2:c.694A>G | ||
| NM_007055.3:c.2031A>G | NP_008986.2:p.Ala677= | |
| NM_007055.4:c.2031A>G MANE Select | NP_008986.2:p.Ala677= |