Linked Data
ClinVar Variation Id:
1897651
ClinVar RCV Id:
RCV002572511
dbSNP Id:
rs1485310664
gnomAD v2:
20-23028509-C-T
gnomAD v4:
20-23047872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047872C>T , CM000682.2:g.23047872C>T | GRCh38 |
| NC_000020.10:g.23028509C>T , CM000682.1:g.23028509C>T | GRCh37 |
| NC_000020.9:g.22976509C>T | NCBI36 |
| NG_012027.1:g.6793G>A , LRG_168:g.6793G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1633G>A MANE Select | ENSP00000366307.2:p.Ala545Thr | |
| ENST00000377103.2:c.1633G>A | ENSP00000366307.2:p.Ala545Thr | |
| NM_000361.2:c.1633G>A , LRG_168t1:c.1633G>A | NP_000352.1:p.Ala545Thr | |
| NM_000361.3:c.1633G>A MANE Select | NP_000352.1:p.Ala545Thr |