Linked Data
ClinVar Variation Id:
2567
dbSNP Id:
rs104894386
ExAC:
13:77569212 G / A
gnomAD v2:
13-77569212-G-A
gnomAD v3:
13-76995077-G-A
gnomAD v4:
13-76995077-G-A
COSMIC:
COSM4672872
PubMed:
PMID:15728307
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995077G>A , CM000675.2:g.76995077G>A | GRCh38 |
| NC_000013.10:g.77569212G>A , CM000675.1:g.77569212G>A | GRCh37 |
| NC_000013.9:g.76467213G>A | NCBI36 |
| NG_009064.1:g.8154G>A , LRG_692:g.8154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.188G>A (CLN5) MANE Select | ENSP00000366673.5:p.Arg63His | |
| ENST00000485938.4:c.188G>A (CLN5) | ENSP00000482959.3:p.Arg63His | |
| ENST00000616833.6:c.188G>A (CLN5) | ENSP00000479547.3:p.Arg63His | |
| ENST00000635905.1:n.189G>A (CLN5) | ||
| ENST00000635915.1:c.127G>A (CLN5) | ||
| ENST00000635989.1:n.198G>A (CLN5) | ||
| ENST00000636183.2:c.188G>A (CLN5) | ENSP00000490181.2:p.Arg63His | |
| ENST00000636520.1:n.1027G>A (CLN5) | ||
| ENST00000636525.2:c.188G>A (CLN5) | ENSP00000490078.2:p.Arg63His | |
| ENST00000636681.1:c.-68G>A (CLN5) | ENSP00000489922.1:n.-68G>A | |
| ENST00000636705.1:c.24G>A (CLN5) | ||
| ENST00000636767.2:c.188G>A (CLN5) | ENSP00000489855.2:p.Arg63His | |
| ENST00000636780.2:c.188G>A (CLN5) | ENSP00000489809.2:p.Arg63His | |
| ENST00000637397.2:c.188G>A (CLN5) | ENSP00000490422.2:p.Arg63His | |
| ENST00000637537.2:c.188G>A (CLN5) | ENSP00000489711.2:p.Arg63His | |
| ENST00000638147.2:c.188G>A | ENSP00000490953.2:p.Arg63His | |
| ENST00000377453.7:c.335G>A (CLN5) | ENSP00000366673.3:p.Arg112His | |
| ENST00000485797.2:n.174-2126C>T (FBXL3) | ||
| ENST00000485938.2:c.171G>A (CLN5) | ||
| ENST00000616833.4:c.188G>A (CLN5) | ENSP00000479547.1:p.Arg63His | |
| NM_006493.2:c.335G>A , LRG_692t1:c.335G>A (CLN5) | NP_006484.1:p.Arg112His | |
| XM_011534917.1:c.335G>A (CLN5) | XP_011533219.1:p.Arg112His | |
| NM_001366624.1:c.188G>A (CLN5) | NP_001353553.1:p.Arg63His | |
| NM_006493.3:c.188G>A (CLN5) | NP_006484.2:p.Arg63His | |
| XM_017020538.2:c.644-2126C>T (FBXL3) | XP_016876027.1:n.644-2126C>T | |
| NM_001366624.2:c.188G>A (CLN5) | NP_001353553.1:p.Arg63His | |
| NM_006493.4:c.188G>A (CLN5) MANE Select | NP_006484.2:p.Arg63His |