Linked Data
ClinVar Variation Id:
2240702
ClinVar RCV Id:
RCV002742400
dbSNP Id:
rs2034262273
gnomAD v3:
13-76996059-T-C
gnomAD v4:
13-76996059-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76996059T>C , CM000675.2:g.76996059T>C | GRCh38 |
| NC_000013.10:g.77570194T>C , CM000675.1:g.77570194T>C | GRCh37 |
| NC_000013.9:g.76468195T>C | NCBI36 |
| NG_009064.1:g.9136T>C , LRG_692:g.9136T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377453.9:c.497T>C (CLN5) MANE Select | ENSP00000366673.5:p.Phe166Ser | |
| ENST00000485938.4:c.497T>C (CLN5) | ENSP00000482959.3:p.Phe166Ser | |
| ENST00000616833.6:c.497T>C (CLN5) | ENSP00000479547.3:p.Phe166Ser | |
| ENST00000635838.1:c.106T>C | ||
| ENST00000635905.1:n.498T>C (CLN5) | ||
| ENST00000635915.1:c.495T>C (CLN5) | ||
| ENST00000635989.1:n.564T>C (CLN5) | ||
| ENST00000636183.2:c.497T>C (CLN5) | ENSP00000490181.2:p.Phe166Ser | |
| ENST00000636520.1:n.2009T>C (CLN5) | ||
| ENST00000636525.2:c.497T>C (CLN5) | ENSP00000490078.2:p.Phe166Ser | |
| ENST00000636602.1:n.443T>C (CLN5) | ||
| ENST00000636681.1:c.*188T>C (CLN5) | ENSP00000489922.1:n.*188T>C | |
| ENST00000636705.1:c.333T>C (CLN5) | ||
| ENST00000636767.2:c.497T>C (CLN5) | ENSP00000489855.2:p.Phe166Ser | |
| ENST00000636780.2:c.497T>C (CLN5) | ENSP00000489809.2:p.Phe166Ser | |
| ENST00000637192.1:c.145T>C | ||
| ENST00000637278.1:n.823T>C (CLN5) | ||
| ENST00000637397.2:c.497T>C (CLN5) | ENSP00000490422.2:p.Phe166Ser | |
| ENST00000637537.2:c.497T>C (CLN5) | ENSP00000489711.2:p.Phe166Ser | |
| ENST00000638101.1:c.101T>C | ENSP00000490535.1:p.Phe34Ser | |
| ENST00000638147.2:c.497T>C | ENSP00000490953.2:p.Phe166Ser | |
| ENST00000377453.7:c.644T>C (CLN5) | ENSP00000366673.3:p.Phe215Ser | |
| ENST00000485797.2:n.174-3108A>G (FBXL3) | ||
| ENST00000485938.2:c.480T>C (CLN5) | ||
| ENST00000616833.4:c.497T>C (CLN5) | ENSP00000479547.1:p.Phe166Ser | |
| NM_006493.2:c.644T>C , LRG_692t1:c.644T>C (CLN5) | NP_006484.1:p.Phe215Ser | |
| XM_011534917.1:c.644T>C (CLN5) | XP_011533219.1:p.Phe215Ser | |
| NM_001366624.1:c.497T>C (CLN5) | NP_001353553.1:p.Phe166Ser | |
| NM_006493.3:c.497T>C (CLN5) | NP_006484.2:p.Phe166Ser | |
| XM_017020538.2:c.644-3108A>G (FBXL3) | XP_016876027.1:n.644-3108A>G | |
| NM_001366624.2:c.497T>C (CLN5) | NP_001353553.1:p.Phe166Ser | |
| NM_006493.4:c.497T>C (CLN5) MANE Select | NP_006484.2:p.Phe166Ser |