Linked Data
ClinVar Variation Id:
56535
dbSNP Id:
rs202146713
gnomAD v2:
13-77569368-G-C
gnomAD v3:
13-76995233-G-C
gnomAD v4:
13-76995233-G-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76995233G>C , CM000675.2:g.76995233G>C | GRCh38 |
| NC_000013.10:g.77569368G>C , CM000675.1:g.77569368G>C | GRCh37 |
| NC_000013.9:g.76467369G>C | NCBI36 |
| NG_009064.1:g.8310G>C , LRG_692:g.8310G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.339+5G>C (CLN5) MANE Select | ENSP00000366673.5:n.339+5G>C | |
| ENST00000485938.4:c.339+5G>C (CLN5) | ENSP00000482959.3:n.339+5G>C | |
| ENST00000616833.6:c.339+5G>C (CLN5) | ENSP00000479547.3:n.339+5G>C | |
| ENST00000635905.1:n.340+5G>C (CLN5) | ||
| ENST00000635915.1:c.278+5G>C (CLN5) | ||
| ENST00000635989.1:n.349+5G>C (CLN5) | ||
| ENST00000636183.2:c.339+5G>C (CLN5) | ENSP00000490181.2:n.339+5G>C | |
| ENST00000636520.1:n.1183G>C (CLN5) | ||
| ENST00000636525.2:c.339+5G>C (CLN5) | ENSP00000490078.2:n.339+5G>C | |
| ENST00000636602.1:n.5G>C (CLN5) | ||
| ENST00000636681.1:c.84+5G>C (CLN5) | ENSP00000489922.1:n.84+5G>C | |
| ENST00000636705.1:c.175+5G>C (CLN5) | ||
| ENST00000636767.2:c.339+5G>C (CLN5) | ENSP00000489855.2:n.339+5G>C | |
| ENST00000636780.2:c.339+5G>C (CLN5) | ENSP00000489809.2:n.339+5G>C | |
| ENST00000637397.2:c.339+5G>C (CLN5) | ENSP00000490422.2:n.339+5G>C | |
| ENST00000637537.2:c.339+5G>C (CLN5) | ENSP00000489711.2:n.339+5G>C | |
| ENST00000638147.2:c.339+5G>C | ENSP00000490953.2:n.339+5G>C | |
| ENST00000377453.7:c.486+5G>C (CLN5) | ENSP00000366673.3:n.486+5G>C | |
| ENST00000485797.2:n.174-2282C>G (FBXL3) | ||
| ENST00000485938.2:c.322+5G>C (CLN5) | ||
| ENST00000616833.4:c.339+5G>C (CLN5) | ENSP00000479547.1:n.339+5G>C | |
| NM_006493.2:c.486+5G>C , LRG_692t1:c.486+5G>C (CLN5) | NP_006484.1:n.486+5G>C | |
| XM_011534917.1:c.486+5G>C (CLN5) | XP_011533219.1:n.486+5G>C | |
| NM_001366624.1:c.339+5G>C (CLN5) | NP_001353553.1:n.339+5G>C | |
| NM_006493.3:c.339+5G>C (CLN5) | NP_006484.2:n.339+5G>C | |
| XM_017020538.2:c.644-2282C>G (FBXL3) | XP_016876027.1:n.644-2282C>G | |
| NM_001366624.2:c.339+5G>C (CLN5) | NP_001353553.1:n.339+5G>C | |
| NM_006493.4:c.339+5G>C (CLN5) MANE Select | NP_006484.2:n.339+5G>C |