Linked Data
ClinVar Variation Id:
426458
dbSNP Id:
rs369347295
ExAC:
19:8367435 C / T
gnomAD v2:
19-8367435-C-T
gnomAD v3:
19-8302551-C-T
gnomAD v4:
19-8302551-C-T
MyVariant Identifiers:
chr19:g.8367435C>T (hg19)
chr19:g.8367435_8367436delinsTG (hg19)
chr19:g.8302551C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8302551C>T , CM000681.2:g.8302551C>T | GRCh38 |
| NC_000019.9:g.8367435C>T , CM000681.1:g.8367435C>T | GRCh37 |
| NC_000019.8:g.8273435C>T | NCBI36 |
| NG_028124.1:g.10806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.761G>A (CD320) MANE Select | ENSP00000301458.4:p.Arg254Gln | |
| ENST00000301458.9:c.761G>A (CD320) | ENSP00000301458.4:p.Arg254Gln | |
| ENST00000351593.9:c.-87-40547G>A (ELAVL1) | ENSP00000264073.6:n.-87-40547G>A | |
| ENST00000537716.6:c.635G>A (CD320) | ENSP00000437697.1:p.Arg212Gln | |
| ENST00000596002.5:c.*1049G>A (CD320) | ENSP00000471773.1:n.*1049G>A | |
| ENST00000599573.1:c.627G>A (CD320) | ||
| NM_001165895.1:c.635G>A (CD320) | NP_001159367.1:p.Arg212Gln | |
| NM_016579.3:c.761G>A (CD320) | NP_057663.1:p.Arg254Gln | |
| NM_016579.4:c.761G>A (CD320) MANE Select | NP_057663.1:p.Arg254Gln | |
| NM_001165895.2:c.635G>A (CD320) | NP_001159367.1:p.Arg212Gln |