Linked Data
dbSNP Id:
rs17241868
gnomAD v2:
3-132066160-A-G
gnomAD v3:
3-132347316-A-G
gnomAD v4:
3-132347316-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132347316A>G , CM000665.2:g.132347316A>G | GRCh38 |
| NC_000003.11:g.132066160A>G , CM000665.1:g.132066160A>G | GRCh37 |
| NC_000003.10:g.133548850A>G | NCBI36 |
| NG_047032.1:g.34950A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351273.12:c.781+2257A>G | ENSP00000323036.8:n.781+2257A>G | |
| ENST00000336375.10:c.781+2257A>G MANE Select | ENSP00000337471.5:n.781+2257A>G | |
| ENST00000336375.9:c.781+2257A>G | ENSP00000337471.5:n.781+2257A>G | |
| ENST00000351273.11:c.781+2257A>G | ENSP00000323036.8:n.781+2257A>G | |
| ENST00000475741.5:c.682+2257A>G | ENSP00000417744.1:n.682+2257A>G | |
| ENST00000512463.1:n.429+2257A>G | ||
| NM_001099.4:c.781+2257A>G | NP_001090.2:n.781+2257A>G | |
| NM_001134194.1:c.781+2257A>G | NP_001127666.1:n.781+2257A>G | |
| NM_001292037.1:c.682+2257A>G | NP_001278966.1:n.682+2257A>G | |
| XM_011512946.1:c.781+2257A>G | XP_011511248.1:n.781+2257A>G | |
| XM_011512947.1:c.682+2257A>G | XP_011511249.1:n.682+2257A>G | |
| XM_011512947.2:c.682+2257A>G | XP_011511249.1:n.682+2257A>G | |
| NM_001099.5:c.781+2257A>G MANE Select | NP_001090.2:n.781+2257A>G | |
| NM_001134194.2:c.781+2257A>G | NP_001127666.1:n.781+2257A>G | |
| NM_001292037.2:c.682+2257A>G | NP_001278966.1:n.682+2257A>G |