Linked Data
ClinVar Variation Id:
2883612
ClinVar RCV Id:
RCV003722060
dbSNP Id:
rs927794488
gnomAD v3:
3-129528854-G-A
gnomAD v4:
3-129528854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528854G>A , CM000665.2:g.129528854G>A | GRCh38 |
| NC_000003.11:g.129247697G>A , CM000665.1:g.129247697G>A | GRCh37 |
| NC_000003.10:g.130730387G>A | NCBI36 |
| NG_009115.1:g.5216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.121G>A MANE Select | ENSP00000296271.3:p.Ala41Thr | |
| ENST00000296271.3:c.121G>A | ENSP00000296271.3:p.Ala41Thr | |
| NM_000539.3:c.121G>A MANE Select | NP_000530.1:p.Ala41Thr |