Linked Data
ClinVar Variation Id:
1036924
ClinVar RCV Id:
RCV001340000
dbSNP Id:
rs376802160
ExAC:
3:129251264 G / A
gnomAD v2:
3-129251264-G-A
gnomAD v3:
3-129532421-G-A
gnomAD v4:
3-129532421-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532421G>A , CM000665.2:g.129532421G>A | GRCh38 |
| NC_000003.11:g.129251264G>A , CM000665.1:g.129251264G>A | GRCh37 |
| NC_000003.10:g.130733954G>A | NCBI36 |
| NG_009115.1:g.8783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.696+5G>A MANE Select | ENSP00000296271.3:n.696+5G>A | |
| ENST00000296271.3:c.696+5G>A | ENSP00000296271.3:n.696+5G>A | |
| NM_000539.3:c.696+5G>A MANE Select | NP_000530.1:n.696+5G>A |