Linked Data
ClinVar Variation Id:
136681
dbSNP Id:
rs2232784
ExAC:
19:8368758 G / A
gnomAD v2:
19-8368758-G-A
gnomAD v3:
19-8303874-G-A
gnomAD v4:
19-8303874-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8303874G>A , CM000681.2:g.8303874G>A | GRCh38 |
| NC_000019.9:g.8368758G>A , CM000681.1:g.8368758G>A | GRCh37 |
| NC_000019.8:g.8274758G>A | NCBI36 |
| NG_028124.1:g.9483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.483C>T (CD320) MANE Select | ENSP00000301458.4:p.Ser161= | |
| ENST00000301458.9:c.483C>T (CD320) | ENSP00000301458.4:p.Ser161= | |
| ENST00000351593.9:c.-87-41870C>T (ELAVL1) | ENSP00000264073.6:n.-87-41870C>T | |
| ENST00000537716.6:c.357C>T (CD320) | ENSP00000437697.1:p.Ser119= | |
| ENST00000596002.5:c.*771C>T (CD320) | ENSP00000471773.1:n.*771C>T | |
| ENST00000599573.1:c.349C>T (CD320) | ||
| NM_001165895.1:c.357C>T (CD320) | NP_001159367.1:p.Ser119= | |
| NM_016579.3:c.483C>T (CD320) | NP_057663.1:p.Ser161= | |
| NM_016579.4:c.483C>T (CD320) MANE Select | NP_057663.1:p.Ser161= | |
| NM_001165895.2:c.357C>T (CD320) | NP_001159367.1:p.Ser119= |