Linked Data
dbSNP Id:
rs2084756872
gnomAD v4:
3-129528847-C-A
MyVariant Identifiers:
chr3:g.129247690C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528847C>A , CM000665.2:g.129528847C>A | GRCh38 |
| NC_000003.11:g.129247690C>A , CM000665.1:g.129247690C>A | GRCh37 |
| NC_000003.10:g.130730380C>A | NCBI36 |
| NG_009115.1:g.5209C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.114C>A MANE Select | ENSP00000296271.3:p.Ser38= | |
| ENST00000296271.3:c.114C>A | ENSP00000296271.3:p.Ser38= | |
| NM_000539.3:c.114C>A MANE Select | NP_000530.1:p.Ser38= |