Linked Data
ClinVar Variation Id:
377633
dbSNP Id:
rs146190802
ExAC:
19:8367424 G / A
gnomAD v2:
19-8367424-G-A
gnomAD v3:
19-8302540-G-A
gnomAD v4:
19-8302540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8302540G>A , CM000681.2:g.8302540G>A | GRCh38 |
| NC_000019.9:g.8367424G>A , CM000681.1:g.8367424G>A | GRCh37 |
| NC_000019.8:g.8273424G>A | NCBI36 |
| NG_028124.1:g.10817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.772C>T (CD320) MANE Select | ENSP00000301458.4:p.Arg258Cys | |
| ENST00000301458.9:c.772C>T (CD320) | ENSP00000301458.4:p.Arg258Cys | |
| ENST00000351593.9:c.-87-40536C>T (ELAVL1) | ENSP00000264073.6:n.-87-40536C>T | |
| ENST00000537716.6:c.646C>T (CD320) | ENSP00000437697.1:p.Arg216Cys | |
| ENST00000596002.5:c.*1060C>T (CD320) | ENSP00000471773.1:n.*1060C>T | |
| ENST00000599573.1:c.638C>T (CD320) | ||
| NM_001165895.1:c.646C>T (CD320) | NP_001159367.1:p.Arg216Cys | |
| NM_016579.3:c.772C>T (CD320) | NP_057663.1:p.Arg258Cys | |
| NM_016579.4:c.772C>T (CD320) MANE Select | NP_057663.1:p.Arg258Cys | |
| NM_001165895.2:c.646C>T (CD320) | NP_001159367.1:p.Arg216Cys |