Linked Data
dbSNP Id:
rs1328974358
gnomAD v2:
17-2216311-C-G
gnomAD v3:
17-2313017-C-G
gnomAD v4:
17-2313017-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2313017C>G , CM000679.2:g.2313017C>G | GRCh38 |
| NC_000017.10:g.2216311C>G , CM000679.1:g.2216311C>G | GRCh37 |
| NC_000017.9:g.2163061C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344595.10:c.-4-2540C>G MANE Select | ENSP00000339435.5:n.-4-2540C>G | |
| ENST00000344595.9:c.-4-2540C>G | ENSP00000339435.5:n.-4-2540C>G | |
| ENST00000570662.2:c.-4-2540C>G | ENSP00000460581.2:n.-4-2540C>G | |
| ENST00000572709.5:c.-4-2540C>G | ENSP00000458814.1:n.-4-2540C>G | |
| ENST00000574987.1:c.-279-4853C>G | ENSP00000461343.1:n.-279-4853C>G | |
| ENST00000575840.5:c.-4-2540C>G | ENSP00000461589.1:n.-4-2540C>G | |
| ENST00000576620.5:c.-4-2540C>G | ENSP00000461125.1:n.-4-2540C>G | |
| ENST00000576848.1:c.-85+9000C>G | ENSP00000476682.1:n.-85+9000C>G | |
| NM_001304803.1:c.-279-4853C>G | NP_001291732.1:n.-279-4853C>G | |
| NM_021947.2:c.-4-2540C>G | NP_068766.1:n.-4-2540C>G | |
| XM_006721565.2:c.-4-2540C>G | XP_006721628.1:n.-4-2540C>G | |
| XM_006721566.2:c.-4-2540C>G | XP_006721629.1:n.-4-2540C>G | |
| XM_011523974.1:c.-4-2540C>G | XP_011522276.1:n.-4-2540C>G | |
| XM_011523975.1:c.-4-2540C>G | XP_011522277.1:n.-4-2540C>G | |
| XM_006721565.3:c.-4-2540C>G | XP_006721628.1:n.-4-2540C>G | |
| XM_006721566.3:c.-4-2540C>G | XP_006721629.1:n.-4-2540C>G | |
| XM_011523974.3:c.-4-2540C>G | XP_011522276.1:n.-4-2540C>G | |
| NM_021947.3:c.-4-2540C>G MANE Select | NP_068766.1:n.-4-2540C>G |