Linked Data
ClinVar Variation Id:
327216
dbSNP Id:
rs557992238
gnomAD v3:
18-51084875-C-T
gnomAD v4:
18-51084875-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51084875C>T , CM000680.2:g.51084875C>T | GRCh38 |
| NC_000018.9:g.48611245C>T , CM000680.1:g.48611245C>T | GRCh37 |
| NC_000018.8:g.46865243C>T | NCBI36 |
| NG_013013.2:g.121836C>T , LRG_318:g.121836C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588860.6:c.*6408C>T | ENSP00000465878.2:n.*6408C>T | |
| ENST00000589076.6:c.*6408C>T | ENSP00000466934.2:n.*6408C>T | |
| ENST00000589941.2:c.*6408C>T | ENSP00000465874.2:n.*6408C>T | |
| ENST00000590061.2:c.*6408C>T | ENSP00000464772.2:n.*6408C>T | |
| ENST00000688574.1:n.8175C>T | ||
| ENST00000342988.8:c.*6408C>T MANE Select | ENSP00000341551.3:n.*6408C>T | |
| ENST00000342988.7:c.*6408C>T | ENSP00000341551.3:n.*6408C>T | |
| ENST00000398417.6:c.*6408C>T | ENSP00000381452.1:n.*6408C>T | |
| NM_005359.5:c.*6408C>T , LRG_318t1:c.*6408C>T | NP_005350.1:n.*6408C>T | |
| NM_005359.6:c.*6408C>T MANE Select | NP_005350.1:n.*6408C>T |