Linked Data
ClinVar Variation Id:
935409
ClinVar RCV Id:
RCV001203997
dbSNP Id:
rs1381050525
gnomAD v2:
3-129249809-A-G
gnomAD v3:
3-129530966-A-G
gnomAD v4:
3-129530966-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530966A>G , CM000665.2:g.129530966A>G | GRCh38 |
| NC_000003.11:g.129249809A>G , CM000665.1:g.129249809A>G | GRCh37 |
| NC_000003.10:g.130732499A>G | NCBI36 |
| NG_009115.1:g.7328A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.452A>G MANE Select | ENSP00000296271.3:p.Asn151Ser | |
| ENST00000296271.3:c.452A>G | ENSP00000296271.3:p.Asn151Ser | |
| NM_000539.3:c.452A>G MANE Select | NP_000530.1:p.Asn151Ser |