Linked Data
ClinVar Variation Id:
2034185
ClinVar RCV Id:
RCV002867697
dbSNP Id:
rs1027131967
gnomAD v2:
13-77570210-T-C
gnomAD v3:
13-76996075-T-C
gnomAD v4:
13-76996075-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76996075T>C , CM000675.2:g.76996075T>C | GRCh38 |
| NC_000013.10:g.77570210T>C , CM000675.1:g.77570210T>C | GRCh37 |
| NC_000013.9:g.76468211T>C | NCBI36 |
| NG_009064.1:g.9152T>C , LRG_692:g.9152T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.513T>C (CLN5) MANE Select | ENSP00000366673.5:p.Asp171= | |
| ENST00000485938.4:c.513T>C (CLN5) | ENSP00000482959.3:p.Asp171= | |
| ENST00000616833.6:c.513T>C (CLN5) | ENSP00000479547.3:p.Asp171= | |
| ENST00000635838.1:c.122T>C | ||
| ENST00000635905.1:n.514T>C (CLN5) | ||
| ENST00000635915.1:c.511T>C (CLN5) | ||
| ENST00000635989.1:n.580T>C (CLN5) | ||
| ENST00000636183.2:c.513T>C (CLN5) | ENSP00000490181.2:p.Asp171= | |
| ENST00000636520.1:n.2025T>C (CLN5) | ||
| ENST00000636525.2:c.513T>C (CLN5) | ENSP00000490078.2:p.Asp171= | |
| ENST00000636602.1:n.459T>C (CLN5) | ||
| ENST00000636681.1:c.*204T>C (CLN5) | ENSP00000489922.1:n.*204T>C | |
| ENST00000636705.1:c.349T>C (CLN5) | ||
| ENST00000636767.2:c.513T>C (CLN5) | ENSP00000489855.2:p.Asp171= | |
| ENST00000636780.2:c.513T>C (CLN5) | ENSP00000489809.2:p.Asp171= | |
| ENST00000637192.1:c.161T>C | ||
| ENST00000637278.1:n.839T>C (CLN5) | ||
| ENST00000637397.2:c.513T>C (CLN5) | ENSP00000490422.2:p.Asp171= | |
| ENST00000637537.2:c.513T>C (CLN5) | ENSP00000489711.2:p.Asp171= | |
| ENST00000638101.1:c.117T>C | ENSP00000490535.1:p.Asp39= | |
| ENST00000638147.2:c.513T>C | ENSP00000490953.2:p.Asp171= | |
| ENST00000377453.7:c.660T>C (CLN5) | ENSP00000366673.3:p.Asp220= | |
| ENST00000485797.2:n.174-3124A>G (FBXL3) | ||
| ENST00000485938.2:c.496T>C (CLN5) | ||
| ENST00000616833.4:c.513T>C (CLN5) | ENSP00000479547.1:p.Asp171= | |
| NM_006493.2:c.660T>C , LRG_692t1:c.660T>C (CLN5) | NP_006484.1:p.Asp220= | |
| XM_011534917.1:c.660T>C (CLN5) | XP_011533219.1:p.Asp220= | |
| NM_001366624.1:c.513T>C (CLN5) | NP_001353553.1:p.Asp171= | |
| NM_006493.3:c.513T>C (CLN5) | NP_006484.2:p.Asp171= | |
| XM_017020538.2:c.644-3124A>G (FBXL3) | XP_016876027.1:n.644-3124A>G | |
| NM_001366624.2:c.513T>C (CLN5) | NP_001353553.1:p.Asp171= | |
| NM_006493.4:c.513T>C (CLN5) MANE Select | NP_006484.2:p.Asp171= |