Linked Data
ClinVar Variation Id:
136680
dbSNP Id:
rs2232783
ExAC:
19:8368794 C / A
gnomAD v2:
19-8368794-C-A
gnomAD v3:
19-8303910-C-A
gnomAD v4:
19-8303910-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8303910C>A , CM000681.2:g.8303910C>A | GRCh38 |
| NC_000019.9:g.8368794C>A , CM000681.1:g.8368794C>A | GRCh37 |
| NC_000019.8:g.8274794C>A | NCBI36 |
| NG_028124.1:g.9447G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.447G>T (CD320) MANE Select | ENSP00000301458.4:p.Thr149= | |
| ENST00000301458.9:c.447G>T (CD320) | ENSP00000301458.4:p.Thr149= | |
| ENST00000351593.9:c.-87-41906G>T (ELAVL1) | ENSP00000264073.6:n.-87-41906G>T | |
| ENST00000537716.6:c.321G>T (CD320) | ENSP00000437697.1:p.Thr107= | |
| ENST00000596002.5:c.*735G>T (CD320) | ENSP00000471773.1:n.*735G>T | |
| ENST00000599573.1:c.313G>T (CD320) | ||
| NM_001165895.1:c.321G>T (CD320) | NP_001159367.1:p.Thr107= | |
| NM_016579.3:c.447G>T (CD320) | NP_057663.1:p.Thr149= | |
| NM_016579.4:c.447G>T (CD320) MANE Select | NP_057663.1:p.Thr149= | |
| NM_001165895.2:c.321G>T (CD320) | NP_001159367.1:p.Thr107= |