Linked Data
ClinVar Variation Id:
1722343
ClinVar RCV Id:
RCV002302457
dbSNP Id:
rs764157867
ExAC:
11:116703571 G / A
gnomAD v2:
11-116703571-G-A
gnomAD v3:
11-116832855-G-A
gnomAD v4:
11-116832855-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832855G>A , CM000673.2:g.116832855G>A | GRCh38 |
| NC_000011.9:g.116703571G>A , CM000673.1:g.116703571G>A | GRCh37 |
| NC_000011.8:g.116208781G>A | NCBI36 |
| NG_008949.1:g.7948G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.271G>A MANE Select | ENSP00000227667.2:p.Val91Ile | |
| ENST00000227667.7:c.271G>A | ENSP00000227667.2:p.Val91Ile | |
| ENST00000375345.3:c.325G>A | ENSP00000364494.1:p.Val109Ile | |
| ENST00000630701.1:c.325G>A | ENSP00000486182.1:p.Val109Ile | |
| NM_000040.1:c.271G>A | NP_000031.1:p.Val91Ile | |
| NM_000040.2:c.271G>A | NP_000031.1:p.Val91Ile | |
| NM_000040.3:c.271G>A MANE Select | NP_000031.1:p.Val91Ile |