Linked Data
ClinVar Variation Id:
342399
ClinVar RCV Id:
RCV000364841
dbSNP Id:
rs886057700
gnomAD v4:
3-10141723-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141723C>A , CM000665.2:g.10141723C>A | GRCh38 |
| NC_000003.11:g.10183407C>A , CM000665.1:g.10183407C>A | GRCh37 |
| NC_000003.10:g.10158407C>A | NCBI36 |
| NG_008212.3:g.5089C>A , LRG_322:g.5089C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256474.2:c.-125C>A | ENSP00000256474.2:n.-125C>A | |
| NM_000551.3:c.-125C>A , LRG_322t1:c.-125C>A | NP_000542.1:n.-125C>A | |
| NM_198156.2:c.-125C>A | NP_937799.1:n.-125C>A | |
| NM_001354723.1:c.-125C>A | NP_001341652.1:n.-125C>A |