Linked Data
ClinVar Variation Id:
1370926
ClinVar RCV Id:
RCV001878742
dbSNP Id:
rs755593080
ExAC:
20:23028445 A / C
gnomAD v2:
20-23028445-A-C
gnomAD v4:
20-23047808-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047808A>C , CM000682.2:g.23047808A>C | GRCh38 |
| NC_000020.10:g.23028445A>C , CM000682.1:g.23028445A>C | GRCh37 |
| NC_000020.9:g.22976445A>C | NCBI36 |
| NG_012027.1:g.6857T>G , LRG_168:g.6857T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1697T>G MANE Select | ENSP00000366307.2:p.Val566Gly | |
| ENST00000377103.2:c.1697T>G | ENSP00000366307.2:p.Val566Gly | |
| NM_000361.2:c.1697T>G , LRG_168t1:c.1697T>G | NP_000352.1:p.Val566Gly | |
| NM_000361.3:c.1697T>G MANE Select | NP_000352.1:p.Val566Gly |