Linked Data
ClinVar Variation Id:
2061809
ClinVar RCV Id:
RCV002952960
dbSNP Id:
rs1403034076
gnomAD v2:
16-88786097-C-T
gnomAD v3:
16-88719689-C-T
gnomAD v4:
16-88719689-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719689C>T , CM000678.2:g.88719689C>T | GRCh38 |
| NC_000016.9:g.88786097C>T , CM000678.1:g.88786097C>T | GRCh37 |
| NC_000016.8:g.87313598C>T | NCBI36 |
| NG_042229.1:g.70532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6356G>A MANE Select | ENSP00000301015.9:p.Arg2119Gln | |
| ENST00000466823.3:c.382G>A | ||
| ENST00000301015.13:c.6356G>A | ENSP00000301015.9:p.Arg2119Gln | |
| ENST00000419505.5:c.122G>A | ENSP00000406358.1:p.Arg41Gln | |
| ENST00000466823.2:c.382G>A | ||
| ENST00000495568.7:n.597G>A | ||
| ENST00000497793.2:n.511G>A | ||
| NM_001142864.2:c.6356G>A | NP_001136336.2:p.Arg2119Gln | |
| NM_001142864.3:c.6356G>A | NP_001136336.2:p.Arg2119Gln | |
| NM_001142864.4:c.6356G>A MANE Select | NP_001136336.2:p.Arg2119Gln |