Linked Data
ClinVar Variation Id:
288533
dbSNP Id:
rs770149235
ExAC:
13:77570039 A / G
gnomAD v2:
13-77570039-A-G
gnomAD v4:
13-76995904-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995904A>G , CM000675.2:g.76995904A>G | GRCh38 |
| NC_000013.10:g.77570039A>G , CM000675.1:g.77570039A>G | GRCh37 |
| NC_000013.9:g.76468040A>G | NCBI36 |
| NG_009064.1:g.8981A>G , LRG_692:g.8981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.342A>G (CLN5) MANE Select | ENSP00000366673.5:p.Lys114= | |
| ENST00000485938.4:c.342A>G (CLN5) | ENSP00000482959.3:p.Lys114= | |
| ENST00000616833.6:c.342A>G (CLN5) | ENSP00000479547.3:p.Lys114= | |
| ENST00000635905.1:n.343A>G (CLN5) | ||
| ENST00000635915.1:c.340A>G (CLN5) | ||
| ENST00000635989.1:n.409A>G (CLN5) | ||
| ENST00000636183.2:c.342A>G (CLN5) | ENSP00000490181.2:p.Lys114= | |
| ENST00000636520.1:n.1854A>G (CLN5) | ||
| ENST00000636525.2:c.342A>G (CLN5) | ENSP00000490078.2:p.Lys114= | |
| ENST00000636602.1:n.288A>G (CLN5) | ||
| ENST00000636681.1:c.*33A>G (CLN5) | ENSP00000489922.1:n.*33A>G | |
| ENST00000636705.1:c.178A>G (CLN5) | ||
| ENST00000636767.2:c.342A>G (CLN5) | ENSP00000489855.2:p.Lys114= | |
| ENST00000636780.2:c.342A>G (CLN5) | ENSP00000489809.2:p.Lys114= | |
| ENST00000637278.1:n.668A>G (CLN5) | ||
| ENST00000637397.2:c.342A>G (CLN5) | ENSP00000490422.2:p.Lys114= | |
| ENST00000637537.2:c.342A>G (CLN5) | ENSP00000489711.2:p.Lys114= | |
| ENST00000638147.2:c.342A>G | ENSP00000490953.2:p.Lys114= | |
| ENST00000377453.7:c.489A>G (CLN5) | ENSP00000366673.3:p.Lys163= | |
| ENST00000485797.2:n.174-2953T>C (FBXL3) | ||
| ENST00000485938.2:c.325A>G (CLN5) | ||
| ENST00000616833.4:c.342A>G (CLN5) | ENSP00000479547.1:p.Lys114= | |
| NM_006493.2:c.489A>G , LRG_692t1:c.489A>G (CLN5) | NP_006484.1:p.Lys163= | |
| XM_011534917.1:c.489A>G (CLN5) | XP_011533219.1:p.Lys163= | |
| NM_001366624.1:c.342A>G (CLN5) | NP_001353553.1:p.Lys114= | |
| NM_006493.3:c.342A>G (CLN5) | NP_006484.2:p.Lys114= | |
| XM_017020538.2:c.644-2953T>C (FBXL3) | XP_016876027.1:n.644-2953T>C | |
| NM_001366624.2:c.342A>G (CLN5) | NP_001353553.1:p.Lys114= | |
| NM_006493.4:c.342A>G (CLN5) MANE Select | NP_006484.2:p.Lys114= |