Linked Data
dbSNP Id:
rs1560082527
gnomAD v2:
3-183777963-A-G
gnomAD v3:
3-184060175-A-G
gnomAD v4:
3-184060175-A-G
MyVariant Identifiers:
chr3:g.183777963A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060175A>G , CM000665.2:g.184060175A>G | GRCh38 |
| NC_000003.11:g.183777963A>G , CM000665.1:g.183777963A>G | GRCh37 |
| NC_000003.10:g.185260657A>G | NCBI36 |
| NG_012749.1:g.12129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1167A>G MANE Select | ENSP00000322617.1:p.Ala389= | |
| ENST00000318351.1:c.1167A>G | ENSP00000322617.1:p.Ala389= | |
| NM_130770.2:c.1167A>G | NP_570126.2:p.Ala389= | |
| NM_130770.3:c.1167A>G MANE Select | NP_570126.2:p.Ala389= |