Linked Data
dbSNP Id:
rs1222107185
gnomAD v2:
1-193091263-A-G
gnomAD v3:
1-193122133-A-G
gnomAD v4:
1-193122133-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122133A>G , CM000663.2:g.193122133A>G | GRCh38 |
| NC_000001.10:g.193091263A>G , CM000663.1:g.193091263A>G | GRCh37 |
| NC_000001.9:g.191357886A>G | NCBI36 |
| NG_012691.1:g.5176A>G , LRG_507:g.5176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.-68A>G MANE Select | ENSP00000356405.4:n.-68A>G | |
| ENST00000643006.1:c.-68A>G | ENSP00000496633.1:n.-68A>G | |
| ENST00000643784.1:c.-68A>G | ENSP00000494944.1:n.-68A>G | |
| ENST00000649895.1:n.151A>G | ||
| ENST00000650197.1:c.-68A>G | ENSP00000496929.1:n.-68A>G | |
| ENST00000367435.3:c.-68A>G | ENSP00000356405.3:n.-68A>G | |
| NM_024529.4:c.-68A>G , LRG_507t1:c.-68A>G | NP_078805.3:n.-68A>G | |
| XM_006711537.2:c.-68A>G | XP_006711600.1:n.-68A>G | |
| XM_006711537.4:c.-68A>G | XP_006711600.1:n.-68A>G | |
| XR_001738350.1:n.1524T>C | ||
| NM_024529.5:c.-68A>G MANE Select | NP_078805.3:n.-68A>G |