Linked Data
ClinVar Variation Id:
2570
dbSNP Id:
rs148862100
ExAC:
13:77575001 A / G
gnomAD v2:
13-77575001-A-G
gnomAD v3:
13-77000866-A-G
gnomAD v4:
13-77000866-A-G
PubMed:
PMID:20157158
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000866A>G , CM000675.2:g.77000866A>G | GRCh38 |
| NC_000013.10:g.77575001A>G , CM000675.1:g.77575001A>G | GRCh37 |
| NC_000013.9:g.76473002A>G | NCBI36 |
| NG_009064.1:g.13943A>G , LRG_692:g.13943A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.974A>G (CLN5) MANE Select | ENSP00000366673.5:p.Tyr325Cys | |
| ENST00000616833.6:c.*416A>G (CLN5) | ENSP00000479547.3:n.*416A>G | |
| ENST00000635838.1:c.174+4739A>G | ||
| ENST00000635905.1:n.566+4739A>G (CLN5) | ||
| ENST00000635915.1:c.972A>G (CLN5) | ||
| ENST00000636183.2:c.974A>G (CLN5) | ENSP00000490181.2:p.Tyr325Cys | |
| ENST00000636525.2:c.565+4739A>G (CLN5) | ENSP00000490078.2:n.565+4739A>G | |
| ENST00000636681.1:c.*665A>G (CLN5) | ENSP00000489922.1:n.*665A>G | |
| ENST00000636705.1:c.810A>G (CLN5) | ||
| ENST00000636767.2:c.565+4739A>G (CLN5) | ENSP00000489855.2:n.565+4739A>G | |
| ENST00000636780.2:c.*423A>G (CLN5) | ENSP00000489809.2:n.*423A>G | |
| ENST00000637192.1:c.213+4739A>G | ||
| ENST00000637278.1:n.1300A>G (CLN5) | ||
| ENST00000637397.2:c.565+4739A>G (CLN5) | ENSP00000490422.2:n.565+4739A>G | |
| ENST00000638101.1:c.169+4739A>G | ENSP00000490535.1:n.169+4739A>G | |
| ENST00000638147.2:c.565+4739A>G | ENSP00000490953.2:n.565+4739A>G | |
| ENST00000377453.7:c.1121A>G (CLN5) | ENSP00000366673.3:p.Tyr374Cys | |
| ENST00000477982.2:n.1443T>C (FBXL3) | ||
| ENST00000485797.2:n.174-7915T>C (FBXL3) | ||
| ENST00000616833.4:c.974A>G (CLN5) | ENSP00000479547.1:p.Tyr325Cys | |
| NM_006493.2:c.1121A>G , LRG_692t1:c.1121A>G (CLN5) | NP_006484.1:p.Tyr374Cys | |
| NM_001366624.1:c.*423A>G (CLN5) | NP_001353553.1:n.*423A>G | |
| NM_006493.3:c.974A>G (CLN5) | NP_006484.2:p.Tyr325Cys | |
| XM_017020538.2:c.644-7915T>C (FBXL3) | XP_016876027.1:n.644-7915T>C | |
| NM_001366624.2:c.*423A>G (CLN5) | NP_001353553.1:n.*423A>G | |
| NM_006493.4:c.974A>G (CLN5) MANE Select | NP_006484.2:p.Tyr325Cys |