ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002536 (AMR)
Exomes Max Group AF
0.00002069 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8308180C>A , CM000681.2:g.8308180C>A | GRCh38 |
| NC_000019.9:g.8373064C>A , CM000681.1:g.8373064C>A | GRCh37 |
| NC_000019.8:g.8279064C>A | NCBI36 |
| NG_028124.1:g.5177G>T | |
| NG_028213.2:g.18217G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.111G>T (CD320) MANE Select | ENSP00000301458.4:p.Pro37= | |
| ENST00000301458.9:c.111G>T (CD320) | ENSP00000301458.4:p.Pro37= | |
| ENST00000351593.9:c.-87-46176G>T (ELAVL1) | ENSP00000264073.6:n.-87-46176G>T | |
| ENST00000537716.6:c.111G>T (CD320) | ENSP00000437697.1:p.Pro37= | |
| ENST00000596002.5:c.111G>T (CD320) | ENSP00000471773.1:p.Pro37= | |
| ENST00000596246.1:n.177G>T (CD320) | ||
| ENST00000598299.1:n.156G>T (CD320) | ||
| ENST00000599573.1:c.92G>T (CD320) | ||
| NM_001165895.1:c.111G>T (CD320) | NP_001159367.1:p.Pro37= | |
| NM_016579.3:c.111G>T (CD320) | NP_057663.1:p.Pro37= | |
| NM_016579.4:c.111G>T (CD320) MANE Select | NP_057663.1:p.Pro37= | |
| NM_001165895.2:c.111G>T (CD320) | NP_001159367.1:p.Pro37= |