Linked Data
ClinVar Variation Id:
1902529
ClinVar RCV Id:
RCV002580349
dbSNP Id:
rs577804609
gnomAD v4:
3-42688268-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688268C>A , CM000665.2:g.42688268C>A | GRCh38 |
| NC_000003.11:g.42729760C>A , CM000665.1:g.42729760C>A | GRCh37 |
| NC_000003.10:g.42704764C>A | NCBI36 |
| NG_033035.1:g.7750C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.1279C>A MANE Select | ENSP00000287777.4:p.Arg427Ser | |
| ENST00000287777.4:c.1279C>A | ENSP00000287777.4:p.Arg427Ser | |
| NM_152393.3:c.1279C>A | NP_689606.2:p.Arg427Ser | |
| XM_005264866.2:c.1279C>A | XP_005264923.1:p.Arg427Ser | |
| NM_152393.4:c.1279C>A MANE Select | NP_689606.2:p.Arg427Ser |