Linked Data
dbSNP Id:
rs1373065601
gnomAD v2:
12-56435860-A-G
gnomAD v3:
12-56042076-A-G
gnomAD v4:
12-56042076-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042076A>G , CM000674.2:g.56042076A>G | GRCh38 |
| NC_000012.11:g.56435860A>G , CM000674.1:g.56435860A>G | GRCh37 |
| NC_000012.10:g.54722127A>G | NCBI36 |
| NG_023201.1:g.5175A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-91A>G | ENSP00000348849.5:n.-91A>G | |
| ENST00000646449.2:c.-91A>G MANE Select | ENSP00000496643.1:n.-91A>G | |
| ENST00000356464.9:c.-91A>G | ENSP00000348849.5:n.-91A>G | |
| ENST00000552361.1:c.-35+12A>G | ENSP00000450339.1:n.-35+12A>G | |
| NM_001029.3:c.-91A>G | NP_001020.2:n.-91A>G | |
| NM_001029.5:c.-91A>G MANE Select | NP_001020.2:n.-91A>G |