Linked Data
ClinVar Variation Id:
128779
dbSNP Id:
rs36038805
ExAC:
13:77575068 T / C
gnomAD v2:
13-77575068-T-C
gnomAD v3:
13-77000933-T-C
gnomAD v4:
13-77000933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77000933T>C , CM000675.2:g.77000933T>C | GRCh38 |
| NC_000013.10:g.77575068T>C , CM000675.1:g.77575068T>C | GRCh37 |
| NC_000013.9:g.76473069T>C | NCBI36 |
| NG_009064.1:g.14010T>C , LRG_692:g.14010T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.1041T>C (CLN5) MANE Select | ENSP00000366673.5:p.Pro347= | |
| ENST00000616833.6:c.*483T>C (CLN5) | ENSP00000479547.3:n.*483T>C | |
| ENST00000635838.1:c.174+4806T>C | ||
| ENST00000635905.1:n.566+4806T>C (CLN5) | ||
| ENST00000635915.1:c.1039T>C (CLN5) | ||
| ENST00000636183.2:c.1041T>C (CLN5) | ENSP00000490181.2:p.Pro347= | |
| ENST00000636525.2:c.565+4806T>C (CLN5) | ENSP00000490078.2:n.565+4806T>C | |
| ENST00000636681.1:c.*732T>C (CLN5) | ENSP00000489922.1:n.*732T>C | |
| ENST00000636705.1:c.877T>C (CLN5) | ||
| ENST00000636767.2:c.565+4806T>C (CLN5) | ENSP00000489855.2:n.565+4806T>C | |
| ENST00000636780.2:c.*490T>C (CLN5) | ENSP00000489809.2:n.*490T>C | |
| ENST00000637192.1:c.213+4806T>C | ||
| ENST00000637278.1:n.1367T>C (CLN5) | ||
| ENST00000637397.2:c.565+4806T>C (CLN5) | ENSP00000490422.2:n.565+4806T>C | |
| ENST00000638101.1:c.169+4806T>C | ENSP00000490535.1:n.169+4806T>C | |
| ENST00000638147.2:c.565+4806T>C | ENSP00000490953.2:n.565+4806T>C | |
| ENST00000377453.7:c.1188T>C (CLN5) | ENSP00000366673.3:p.Pro396= | |
| ENST00000477982.2:n.1376A>G (FBXL3) | ||
| ENST00000485797.2:n.174-7982A>G (FBXL3) | ||
| ENST00000616833.4:c.1041T>C (CLN5) | ENSP00000479547.1:p.Pro347= | |
| NM_006493.2:c.1188T>C , LRG_692t1:c.1188T>C (CLN5) | NP_006484.1:p.Pro396= | |
| NM_001366624.1:c.*490T>C (CLN5) | NP_001353553.1:n.*490T>C | |
| NM_006493.3:c.1041T>C (CLN5) | NP_006484.2:p.Pro347= | |
| XM_017020538.2:c.644-7982A>G (FBXL3) | XP_016876027.1:n.644-7982A>G | |
| NM_001366624.2:c.*490T>C (CLN5) | NP_001353553.1:n.*490T>C | |
| NM_006493.4:c.1041T>C (CLN5) MANE Select | NP_006484.2:p.Pro347= |