Linked Data
dbSNP Id:
rs1259763369
gnomAD v2:
3-183778044-G-A
gnomAD v3:
3-184060256-G-A
gnomAD v4:
3-184060256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060256G>A , CM000665.2:g.184060256G>A | GRCh38 |
| NC_000003.11:g.183778044G>A , CM000665.1:g.183778044G>A | GRCh37 |
| NC_000003.10:g.185260738G>A | NCBI36 |
| NG_012749.1:g.12210G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1248G>A MANE Select | ENSP00000322617.1:p.Val416= | |
| ENST00000318351.1:c.1248G>A | ENSP00000322617.1:p.Val416= | |
| NM_130770.2:c.1248G>A | NP_570126.2:p.Val416= | |
| NM_130770.3:c.1248G>A MANE Select | NP_570126.2:p.Val416= |