Linked Data
dbSNP Id:
rs1370059067
gnomAD v2:
1-27023305-C-G
gnomAD v3:
1-26696814-C-G
gnomAD v4:
1-26696814-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696814C>G , CM000663.2:g.26696814C>G | GRCh38 |
| NC_000001.10:g.27023305C>G , CM000663.1:g.27023305C>G | GRCh37 |
| NC_000001.9:g.26895892C>G | NCBI36 |
| NG_029965.1:g.5784C>G , LRG_875:g.5784C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.411C>G MANE Select | ENSP00000320485.7:p.His137Gln | |
| ENST00000430799.7:c.-13+3197C>G | ENSP00000390317.3:n.-13+3197C>G | |
| ENST00000637465.1:c.-13+714C>G | ENSP00000490650.1:n.-13+714C>G | |
| ENST00000324856.11:c.411C>G | ENSP00000320485.7:p.His137Gln | |
| ENST00000457599.6:c.411C>G | ENSP00000387636.2:p.His137Gln | |
| NM_006015.4:c.411C>G , LRG_875t1:c.411C>G | NP_006006.3:p.His137Gln | |
| NM_139135.2:c.411C>G | NP_624361.1:p.His137Gln | |
| NM_006015.5:c.411C>G | NP_006006.3:p.His137Gln | |
| NM_139135.3:c.411C>G | NP_624361.1:p.His137Gln | |
| NM_006015.6:c.411C>G MANE Select | NP_006006.3:p.His137Gln | |
| NM_139135.4:c.411C>G | NP_624361.1:p.His137Gln |