Linked Data
ClinVar Variation Id:
2428603
ClinVar RCV Id:
RCV003120204
dbSNP Id:
rs1912291254
gnomAD v4:
16-88719692-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719692A>T , CM000678.2:g.88719692A>T | GRCh38 |
| NC_000016.9:g.88786100A>T , CM000678.1:g.88786100A>T | GRCh37 |
| NC_000016.8:g.87313601A>T | NCBI36 |
| NG_042229.1:g.70529T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6353T>A MANE Select | ENSP00000301015.9:p.Leu2118Gln | |
| ENST00000466823.3:c.379T>A | ||
| ENST00000301015.13:c.6353T>A | ENSP00000301015.9:p.Leu2118Gln | |
| ENST00000419505.5:c.119T>A | ENSP00000406358.1:p.Leu40Gln | |
| ENST00000466823.2:c.379T>A | ||
| ENST00000495568.7:n.594T>A | ||
| ENST00000497793.2:n.508T>A | ||
| NM_001142864.2:c.6353T>A | NP_001136336.2:p.Leu2118Gln | |
| NM_001142864.3:c.6353T>A | NP_001136336.2:p.Leu2118Gln | |
| NM_001142864.4:c.6353T>A MANE Select | NP_001136336.2:p.Leu2118Gln |