Linked Data
ClinVar Variation Id:
39354
ClinVar RCV Id:
RCV000948522
dbSNP Id:
rs3758581
gnomAD v3:
10-94842866-A-G
gnomAD v4:
10-94842866-A-G
MyVariant Identifiers:
chr10:g.94842866A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94842866A>G , CM000672.2:g.94842866A>G | GRCh38 |
| NG_008384.2:g.85161A>G | |
| NG_008384.3:g.85186A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.991A>G MANE Select | ENSP00000360372.3:p.Ile331Val | |
| ENST00000645461.1:n.1902A>G | ||
| ENST00000371321.7:c.991A>G | ENSP00000360372.3:p.Ile331Val | |
| ENST00000464755.1:c.1754A>G | ENSP00000483243.1:n.1754A>G | |
| NM_000769.2:c.991A>G | NP_000760.1:p.Ile331Val | |
| NM_000769.4:c.991A>G MANE Select | NP_000760.1:p.Ile331Val |