Linked Data
ClinVar Variation Id:
2196803
ClinVar RCV Id:
RCV002624468
dbSNP Id:
rs1476322252
gnomAD v2:
13-77574893-A-G
gnomAD v3:
13-77000758-A-G
gnomAD v4:
13-77000758-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000758A>G , CM000675.2:g.77000758A>G | GRCh38 |
| NC_000013.10:g.77574893A>G , CM000675.1:g.77574893A>G | GRCh37 |
| NC_000013.9:g.76472894A>G | NCBI36 |
| NG_009064.1:g.13835A>G , LRG_692:g.13835A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.866A>G (CLN5) MANE Select | ENSP00000366673.5:p.Lys289Arg | |
| ENST00000616833.6:c.*308A>G (CLN5) | ENSP00000479547.3:n.*308A>G | |
| ENST00000635838.1:c.174+4631A>G | ||
| ENST00000635905.1:n.566+4631A>G (CLN5) | ||
| ENST00000635915.1:c.864A>G (CLN5) | ||
| ENST00000636183.2:c.866A>G (CLN5) | ENSP00000490181.2:p.Lys289Arg | |
| ENST00000636525.2:c.565+4631A>G (CLN5) | ENSP00000490078.2:n.565+4631A>G | |
| ENST00000636681.1:c.*557A>G (CLN5) | ENSP00000489922.1:n.*557A>G | |
| ENST00000636705.1:c.702A>G (CLN5) | ||
| ENST00000636767.2:c.565+4631A>G (CLN5) | ENSP00000489855.2:n.565+4631A>G | |
| ENST00000636780.2:c.*315A>G (CLN5) | ENSP00000489809.2:n.*315A>G | |
| ENST00000637192.1:c.213+4631A>G | ||
| ENST00000637278.1:n.1192A>G (CLN5) | ||
| ENST00000637397.2:c.565+4631A>G (CLN5) | ENSP00000490422.2:n.565+4631A>G | |
| ENST00000638101.1:c.169+4631A>G | ENSP00000490535.1:n.169+4631A>G | |
| ENST00000638147.2:c.565+4631A>G | ENSP00000490953.2:n.565+4631A>G | |
| ENST00000377453.7:c.1013A>G (CLN5) | ENSP00000366673.3:p.Lys338Arg | |
| ENST00000477982.2:n.1551T>C (FBXL3) | ||
| ENST00000485797.2:n.174-7807T>C (FBXL3) | ||
| ENST00000616833.4:c.866A>G (CLN5) | ENSP00000479547.1:p.Lys289Arg | |
| NM_006493.2:c.1013A>G , LRG_692t1:c.1013A>G (CLN5) | NP_006484.1:p.Lys338Arg | |
| XM_011534917.1:c.*315A>G (CLN5) | XP_011533219.1:n.*315A>G | |
| NM_001366624.1:c.*315A>G (CLN5) | NP_001353553.1:n.*315A>G | |
| NM_006493.3:c.866A>G (CLN5) | NP_006484.2:p.Lys289Arg | |
| XM_017020538.2:c.644-7807T>C (FBXL3) | XP_016876027.1:n.644-7807T>C | |
| NM_001366624.2:c.*315A>G (CLN5) | NP_001353553.1:n.*315A>G | |
| NM_006493.4:c.866A>G (CLN5) MANE Select | NP_006484.2:p.Lys289Arg |