Linked Data
dbSNP Id:
rs117410905
gnomAD v2:
17-61045035-A-G
gnomAD v3:
17-62967674-A-G
gnomAD v4:
17-62967674-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.62967674A>G , CM000679.2:g.62967674A>G | GRCh38 |
| NC_000017.10:g.61045035A>G , CM000679.1:g.61045035A>G | GRCh37 |
| NC_000017.9:g.58398767A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689528.1:c.-24+925A>G MANE Select | ENSP00000510600.1:n.-24+925A>G | |
| XM_005257203.3:c.-24+925A>G | XP_005257260.1:n.-24+925A>G | |
| XM_006721806.2:c.-24+925A>G | XP_006721869.1:n.-24+925A>G | |
| XM_006721807.2:c.-24+925A>G | XP_006721870.1:n.-24+925A>G | |
| XM_006721810.2:c.-24+925A>G | XP_006721873.1:n.-24+925A>G | |
| XM_006721811.2:c.-24+925A>G | XP_006721874.1:n.-24+925A>G | |
| XM_011524597.1:c.-24+925A>G | XP_011522899.1:n.-24+925A>G | |
| XM_011524598.1:c.-24+925A>G | XP_011522900.1:n.-24+925A>G | |
| XM_011524600.1:c.-24+925A>G | XP_011522902.1:n.-24+925A>G | |
| XM_011524601.1:c.-24+925A>G | XP_011522903.1:n.-24+925A>G | |
| XM_011524602.1:c.-24+925A>G | XP_011522904.1:n.-24+925A>G | |
| XM_005257203.4:c.-24+925A>G | XP_005257260.1:n.-24+925A>G | |
| XM_006721806.3:c.-24+925A>G | XP_006721869.1:n.-24+925A>G | |
| XM_006721807.3:c.-24+925A>G | XP_006721870.1:n.-24+925A>G | |
| XM_006721810.3:c.-24+925A>G | XP_006721873.1:n.-24+925A>G | |
| XM_006721811.4:c.-24+925A>G | XP_006721874.1:n.-24+925A>G | |
| XM_011524597.2:c.-24+925A>G | XP_011522899.1:n.-24+925A>G | |
| XM_011524598.2:c.-24+925A>G | XP_011522900.1:n.-24+925A>G | |
| XM_011524600.2:c.-24+925A>G | XP_011522902.1:n.-24+925A>G | |
| XM_011524601.2:c.-24+925A>G | XP_011522903.1:n.-24+925A>G | |
| XM_011524602.2:c.-24+925A>G | XP_011522904.1:n.-24+925A>G | |
| XM_017024431.1:c.-24+925A>G | XP_016879920.1:n.-24+925A>G | |
| NM_025185.4:c.-24+925A>G | NP_079461.2:n.-24+925A>G | |
| NM_001394998.1:c.-24+925A>G MANE Select | NP_001381927.1:n.-24+925A>G |