Linked Data
ClinVar Variation Id:
420639
dbSNP Id:
rs755669847
ExAC:
13:77574688 G / C
gnomAD v2:
13-77574688-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000553G>C , CM000675.2:g.77000553G>C | GRCh38 |
| NC_000013.10:g.77574688G>C , CM000675.1:g.77574688G>C | GRCh37 |
| NC_000013.9:g.76472689G>C | NCBI36 |
| NG_009064.1:g.13630G>C , LRG_692:g.13630G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.661G>C (CLN5) MANE Select | ENSP00000366673.5:p.Gly221Arg | |
| ENST00000616833.6:c.*103G>C (CLN5) | ENSP00000479547.3:n.*103G>C | |
| ENST00000635838.1:c.174+4426G>C | ||
| ENST00000635905.1:n.566+4426G>C (CLN5) | ||
| ENST00000635915.1:c.659G>C (CLN5) | ||
| ENST00000636183.2:c.661G>C (CLN5) | ENSP00000490181.2:p.Gly221Arg | |
| ENST00000636525.2:c.565+4426G>C (CLN5) | ENSP00000490078.2:n.565+4426G>C | |
| ENST00000636681.1:c.*352G>C (CLN5) | ENSP00000489922.1:n.*352G>C | |
| ENST00000636705.1:c.497G>C (CLN5) | ||
| ENST00000636767.2:c.565+4426G>C (CLN5) | ENSP00000489855.2:n.565+4426G>C | |
| ENST00000636780.2:c.*110G>C (CLN5) | ENSP00000489809.2:n.*110G>C | |
| ENST00000637192.1:c.213+4426G>C | ||
| ENST00000637278.1:n.987G>C (CLN5) | ||
| ENST00000637397.2:c.565+4426G>C (CLN5) | ENSP00000490422.2:n.565+4426G>C | |
| ENST00000638101.1:c.169+4426G>C | ENSP00000490535.1:n.169+4426G>C | |
| ENST00000638147.2:c.565+4426G>C | ENSP00000490953.2:n.565+4426G>C | |
| ENST00000377453.7:c.808G>C (CLN5) | ENSP00000366673.3:p.Gly270Arg | |
| ENST00000477982.2:n.1756C>G (FBXL3) | ||
| ENST00000485797.2:n.174-7602C>G (FBXL3) | ||
| ENST00000616833.4:c.661G>C (CLN5) | ENSP00000479547.1:p.Gly221Arg | |
| NM_006493.2:c.808G>C , LRG_692t1:c.808G>C (CLN5) | NP_006484.1:p.Gly270Arg | |
| XM_011534917.1:c.*110G>C (CLN5) | XP_011533219.1:n.*110G>C | |
| NM_001366624.1:c.*110G>C (CLN5) | NP_001353553.1:n.*110G>C | |
| NM_006493.3:c.661G>C (CLN5) | NP_006484.2:p.Gly221Arg | |
| XM_017020538.2:c.644-7602C>G (FBXL3) | XP_016876027.1:n.644-7602C>G | |
| NM_001366624.2:c.*110G>C (CLN5) | NP_001353553.1:n.*110G>C | |
| NM_006493.4:c.661G>C (CLN5) MANE Select | NP_006484.2:p.Gly221Arg |