Linked Data
ClinVar Variation Id:
925865
dbSNP Id:
rs775172479
ExAC:
15:48703516 T / C
gnomAD v2:
15-48703516-T-C
gnomAD v4:
15-48411319-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411319T>C , CM000677.2:g.48411319T>C | GRCh38 |
| NC_000015.9:g.48703516T>C , CM000677.1:g.48703516T>C | GRCh37 |
| NC_000015.8:g.46490808T>C | NCBI36 |
| NG_008805.2:g.239470A>G , LRG_778:g.239470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1095A>G | ENSP00000453958.2:n.*1095A>G | |
| ENST00000674301.2:c.*1800A>G | ENSP00000501333.2:n.*1800A>G | |
| ENST00000682158.1:n.1668A>G | ||
| ENST00000682170.1:n.2468A>G | ||
| ENST00000682767.1:n.1584A>G | ||
| ENST00000316623.10:c.8287A>G MANE Select | ENSP00000325527.5:p.Ile2763Val | |
| ENST00000674301.1:c.3453A>G | ENSP00000501333.1:n.3453A>G | |
| ENST00000316623.9:c.8287A>G | ENSP00000325527.5:p.Ile2763Val | |
| ENST00000559133.5:c.3656A>G | ||
| ENST00000561429.1:n.542A>G | ||
| NM_000138.4:c.8287A>G , LRG_778t1:c.8287A>G | NP_000129.3:p.Ile2763Val | |
| NM_000138.5:c.8287A>G MANE Select | NP_000129.3:p.Ile2763Val |