Linked Data
ClinVar Variation Id:
312433
dbSNP Id:
rs700364
gnomAD v2:
13-77575284-C-T
gnomAD v3:
13-77001149-C-T
gnomAD v4:
13-77001149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77001149C>T , CM000675.2:g.77001149C>T | GRCh38 |
| NC_000013.10:g.77575284C>T , CM000675.1:g.77575284C>T | GRCh37 |
| NC_000013.9:g.76473285C>T | NCBI36 |
| NG_009064.1:g.14226C>T , LRG_692:g.14226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.*180C>T (CLN5) MANE Select | ENSP00000366673.5:n.*180C>T | |
| ENST00000616833.6:c.*699C>T (CLN5) | ENSP00000479547.3:n.*699C>T | |
| ENST00000635838.1:c.174+5022C>T | ||
| ENST00000635905.1:n.566+5022C>T (CLN5) | ||
| ENST00000635915.1:c.1255C>T (CLN5) | ||
| ENST00000636183.2:c.*180C>T (CLN5) | ENSP00000490181.2:n.*180C>T | |
| ENST00000636525.2:c.565+5022C>T (CLN5) | ENSP00000490078.2:n.565+5022C>T | |
| ENST00000636681.1:c.*948C>T (CLN5) | ENSP00000489922.1:n.*948C>T | |
| ENST00000636705.1:c.1093C>T (CLN5) | ||
| ENST00000636767.2:c.565+5022C>T (CLN5) | ENSP00000489855.2:n.565+5022C>T | |
| ENST00000636780.2:c.*706C>T (CLN5) | ENSP00000489809.2:n.*706C>T | |
| ENST00000637192.1:c.213+5022C>T | ||
| ENST00000637278.1:n.1583C>T (CLN5) | ||
| ENST00000637397.2:c.565+5022C>T (CLN5) | ENSP00000490422.2:n.565+5022C>T | |
| ENST00000638101.1:c.169+5022C>T | ENSP00000490535.1:n.169+5022C>T | |
| ENST00000638147.2:c.565+5022C>T | ENSP00000490953.2:n.565+5022C>T | |
| ENST00000377453.7:c.*180C>T (CLN5) | ENSP00000366673.3:n.*180C>T | |
| ENST00000477982.2:n.1160G>A (FBXL3) | ||
| ENST00000485797.2:n.174-8198G>A (FBXL3) | ||
| ENST00000616833.4:c.*180C>T (CLN5) | ENSP00000479547.1:n.*180C>T | |
| NM_006493.2:c.*180C>T , LRG_692t1:c.*180C>T (CLN5) | NP_006484.1:n.*180C>T | |
| NM_001366624.1:c.*706C>T (CLN5) | NP_001353553.1:n.*706C>T | |
| NM_006493.3:c.*180C>T (CLN5) | NP_006484.2:n.*180C>T | |
| XM_017020538.2:c.644-8198G>A (FBXL3) | XP_016876027.1:n.644-8198G>A | |
| NM_001366624.2:c.*706C>T (CLN5) | NP_001353553.1:n.*706C>T | |
| NM_006493.4:c.*180C>T (CLN5) MANE Select | NP_006484.2:n.*180C>T |