Linked Data
dbSNP Id:
rs1361869402
gnomAD v2:
3-37603900-G-A
gnomAD v3:
3-37562409-G-A
gnomAD v4:
3-37562409-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37562409G>A , CM000665.2:g.37562409G>A | GRCh38 |
| NC_000003.11:g.37603900G>A , CM000665.1:g.37603900G>A | GRCh37 |
| NC_000003.10:g.37578904G>A | NCBI36 |
| NG_016166.1:g.115088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264741.10:c.1689+19824G>A MANE Select | ENSP00000264741.5:n.1689+19824G>A | |
| ENST00000264741.9:c.1689+19824G>A | ENSP00000264741.5:n.1689+19824G>A | |
| ENST00000422441.5:c.1689+19824G>A | ENSP00000397258.1:n.1689+19824G>A | |
| NM_002207.2:c.1689+19824G>A | NP_002198.2:n.1689+19824G>A | |
| NM_002207.3:c.1689+19824G>A MANE Select | NP_002198.2:n.1689+19824G>A |