Linked Data
dbSNP Id:
rs1416561174
gnomAD v2:
3-186561598-A-G
gnomAD v3:
3-186843809-A-G
gnomAD v4:
3-186843809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186843809A>G , CM000665.2:g.186843809A>G | GRCh38 |
| NC_000003.11:g.186561598A>G , CM000665.1:g.186561598A>G | GRCh37 |
| NC_000003.10:g.188044292A>G | NCBI36 |
| NG_021140.1:g.6136A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320741.7:c.-9+1060A>G MANE Select | ENSP00000320709.2:n.-9+1060A>G | |
| ENST00000320741.6:c.-9+1060A>G | ENSP00000320709.2:n.-9+1060A>G | |
| ENST00000444204.2:c.-60+1060A>G | ENSP00000389814.2:n.-60+1060A>G | |
| NM_001177800.1:c.-60+1060A>G | NP_001171271.1:n.-60+1060A>G | |
| NM_004797.3:c.-9+1060A>G | NP_004788.1:n.-9+1060A>G | |
| XM_011513324.1:c.-125+1060A>G | XP_011511626.1:n.-125+1060A>G | |
| NM_004797.4:c.-9+1060A>G MANE Select | NP_004788.1:n.-9+1060A>G | |
| NM_001177800.2:c.-60+1060A>G | NP_001171271.1:n.-60+1060A>G |