Linked Data
ClinVar Variation Id:
136686
dbSNP Id:
rs2227289
ExAC:
19:8367359 G / C
gnomAD v2:
19-8367359-G-C
gnomAD v3:
19-8302475-G-C
gnomAD v4:
19-8302475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8302475G>C , CM000681.2:g.8302475G>C | GRCh38 |
| NC_000019.9:g.8367359G>C , CM000681.1:g.8367359G>C | GRCh37 |
| NC_000019.8:g.8273359G>C | NCBI36 |
| NG_028124.1:g.10882C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.837C>G (CD320) MANE Select | ENSP00000301458.4:p.Thr279= | |
| ENST00000301458.9:c.837C>G (CD320) | ENSP00000301458.4:p.Thr279= | |
| ENST00000351593.9:c.-87-40471C>G (ELAVL1) | ENSP00000264073.6:n.-87-40471C>G | |
| ENST00000537716.6:c.711C>G (CD320) | ENSP00000437697.1:p.Thr237= | |
| ENST00000596002.5:c.*1125C>G (CD320) | ENSP00000471773.1:n.*1125C>G | |
| ENST00000599573.1:c.703C>G (CD320) | ||
| NM_001165895.1:c.711C>G (CD320) | NP_001159367.1:p.Thr237= | |
| NM_016579.3:c.837C>G (CD320) | NP_057663.1:p.Thr279= | |
| NM_016579.4:c.837C>G (CD320) MANE Select | NP_057663.1:p.Thr279= | |
| NM_001165895.2:c.711C>G (CD320) | NP_001159367.1:p.Thr237= |