Linked Data
ClinVar Variation Id:
2102328
ClinVar RCV Id:
RCV003019468
dbSNP Id:
rs143625916
gnomAD v4:
20-23047836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047836G>A , CM000682.2:g.23047836G>A | GRCh38 |
| NC_000020.10:g.23028473G>A , CM000682.1:g.23028473G>A | GRCh37 |
| NC_000020.9:g.22976473G>A | NCBI36 |
| NG_012027.1:g.6829C>T , LRG_168:g.6829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1669C>T MANE Select | ENSP00000366307.2:p.Pro557Ser | |
| ENST00000377103.2:c.1669C>T | ENSP00000366307.2:p.Pro557Ser | |
| NM_000361.2:c.1669C>T , LRG_168t1:c.1669C>T | NP_000352.1:p.Pro557Ser | |
| NM_000361.3:c.1669C>T MANE Select | NP_000352.1:p.Pro557Ser |