Linked Data
ClinVar Variation Id:
257621
dbSNP Id:
rs374359416
gnomAD v3:
20-6778528-C-T
gnomAD v4:
20-6778528-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778528C>T , CM000682.2:g.6778528C>T | GRCh38 |
| NC_000020.10:g.6759175C>T , CM000682.1:g.6759175C>T | GRCh37 |
| NC_000020.9:g.6707175C>T | NCBI36 |
| NG_023233.1:g.15431C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378827.5:c.630C>T MANE Select | ENSP00000368104.3:p.Thr210= | |
| ENST00000378827.4:c.630C>T | ENSP00000368104.3:p.Thr210= | |
| NM_001200.2:c.630C>T | NP_001191.1:p.Thr210= | |
| XM_011529323.1:c.162C>T | XP_011527625.1:p.Thr54= | |
| NM_001200.3:c.630C>T | NP_001191.1:p.Thr210= | |
| NM_001200.4:c.630C>T MANE Select | NP_001191.1:p.Thr210= |