Linked Data
dbSNP Id:
rs2284060
gnomAD v2:
22-38543453-T-C
gnomAD v3:
22-38147446-T-C
gnomAD v4:
22-38147446-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38147446T>C , CM000684.2:g.38147446T>C | GRCh38 |
| NC_000022.10:g.38543453T>C , CM000684.1:g.38543453T>C | GRCh37 |
| NC_000022.9:g.36873399T>C | NCBI36 |
| NG_007094.2:g.63245A>G | |
| NG_007094.3:g.72333A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332509.8:c.210-1793A>G MANE Select | ENSP00000333142.3:n.210-1793A>G | |
| ENST00000427114.6:c.-325-1793A>G | ENSP00000407743.2:n.-325-1793A>G | |
| ENST00000436218.6:c.210-1793A>G | ENSP00000401242.1:n.210-1793A>G | |
| ENST00000655142.1:c.210-1793A>G | ENSP00000499715.1:n.210-1793A>G | |
| ENST00000660610.1:c.210-1793A>G | ENSP00000499555.1:n.210-1793A>G | |
| ENST00000663895.1:c.210-1793A>G | ENSP00000499712.1:n.210-1793A>G | |
| ENST00000664587.1:c.210-1793A>G | ENSP00000499394.1:n.210-1793A>G | |
| ENST00000665987.1:c.*14A>G | ENSP00000499423.1:n.*14A>G | |
| ENST00000667521.1:c.210-1793A>G | ENSP00000499665.1:n.210-1793A>G | |
| ENST00000668208.1:n.340-1793A>G | ||
| ENST00000668499.1:c.*40+1047A>G | ENSP00000499626.1:n.*40+1047A>G | |
| ENST00000668949.1:c.210-1793A>G | ENSP00000499711.1:n.210-1793A>G | |
| ENST00000671093.1:n.207A>G | ||
| ENST00000673413.1:c.*40+1047A>G | ENSP00000500600.1:n.*40+1047A>G | |
| ENST00000332509.7:c.210-1793A>G | ENSP00000333142.3:n.210-1793A>G | |
| ENST00000335539.7:c.210-1793A>G | ENSP00000335149.3:n.210-1793A>G | |
| ENST00000402064.5:c.210-1793A>G | ENSP00000386100.1:n.210-1793A>G | |
| ENST00000417303.6:c.*40+1047A>G | ENSP00000404974.2:n.*40+1047A>G | |
| ENST00000420435.5:n.461A>G | ||
| ENST00000426674.1:n.404A>G | ||
| ENST00000430886.5:c.210-4158A>G | ENSP00000395464.1:n.210-4158A>G | |
| ENST00000435484.5:c.*40+1047A>G | ENSP00000413597.1:n.*40+1047A>G | |
| ENST00000436218.5:c.210-1793A>G | ENSP00000401242.1:n.210-1793A>G | |
| ENST00000445591.5:n.259-1793A>G | ||
| ENST00000447598.6:c.*40+1047A>G | ENSP00000393361.2:n.*40+1047A>G | |
| ENST00000452972.1:n.174-1793A>G | ||
| ENST00000455341.2:c.210-1793A>G | ENSP00000393761.2:n.210-1793A>G | |
| ENST00000471636.5:n.286-1793A>G | ||
| ENST00000479641.5:n.136-1793A>G | ||
| NM_001004426.1:c.210-1793A>G | NP_001004426.1:n.210-1793A>G | |
| NM_001199562.1:c.210-1793A>G | NP_001186491.1:n.210-1793A>G | |
| NM_003560.2:c.210-1793A>G | NP_003551.2:n.210-1793A>G | |
| XM_005261764.1:c.210-1793A>G | XP_005261821.1:n.210-1793A>G | |
| XM_005261765.1:c.210-1793A>G | XP_005261822.1:n.210-1793A>G | |
| XM_005261766.1:c.210-1793A>G | XP_005261823.1:n.210-1793A>G | |
| XM_005261771.3:c.210-1793A>G | XP_005261828.1:n.210-1793A>G | |
| XM_006724332.2:c.210-1793A>G | XP_006724395.1:n.210-1793A>G | |
| XM_011530422.1:c.210-1793A>G | XP_011528724.1:n.210-1793A>G | |
| XM_011530423.1:c.-326+1047A>G | XP_011528725.1:n.-326+1047A>G | |
| XM_011530424.1:c.-422A>G | XP_011528726.1:n.-422A>G | |
| XM_011530425.1:c.-408-1793A>G | XP_011528727.1:n.-408-1793A>G | |
| XM_011530426.1:c.210-1793A>G | XP_011528728.1:n.210-1793A>G | |
| XM_011530427.1:c.210-1793A>G | XP_011528729.1:n.210-1793A>G | |
| XM_011530428.1:c.210-1793A>G | XP_011528730.1:n.210-1793A>G | |
| XR_244390.1:n.318-1793A>G | ||
| XR_244392.1:n.318-1793A>G | ||
| XR_430411.1:n.318-1793A>G | ||
| XR_430412.1:n.318-1793A>G | ||
| XR_937937.1:n.318-1793A>G | ||
| XR_937938.1:n.318-1793A>G | ||
| XR_937939.1:n.318-1793A>G | ||
| XR_937940.1:n.318-1793A>G | ||
| NM_001004426.2:c.210-1793A>G | NP_001004426.1:n.210-1793A>G | |
| NM_001199562.2:c.210-1793A>G | NP_001186491.1:n.210-1793A>G | |
| NM_001349864.1:c.210-1793A>G | NP_001336793.1:n.210-1793A>G | |
| NM_001349865.1:c.210-1793A>G | NP_001336794.1:n.210-1793A>G | |
| NM_001349866.1:c.210-1793A>G | NP_001336795.1:n.210-1793A>G | |
| NM_001349867.1:c.-326+1047A>G | NP_001336796.1:n.-326+1047A>G | |
| NM_001349868.1:c.-281-1793A>G | NP_001336797.1:n.-281-1793A>G | |
| NM_001349869.1:c.-326+1047A>G | NP_001336798.1:n.-326+1047A>G | |
| NM_003560.3:c.210-1793A>G | NP_003551.2:n.210-1793A>G | |
| XM_005261764.3:c.210-1793A>G | XP_005261821.1:n.210-1793A>G | |
| XM_005261765.2:c.210-1793A>G | XP_005261822.1:n.210-1793A>G | |
| XM_006724332.4:c.210-1793A>G | XP_006724395.1:n.210-1793A>G | |
| XM_011530426.3:c.210-1793A>G | XP_011528728.1:n.210-1793A>G | |
| XM_017028983.1:c.-422A>G | XP_016884472.1:n.-422A>G | |
| XM_017028986.2:c.210-1793A>G | XP_016884475.1:n.210-1793A>G | |
| XM_017028987.2:c.210-1793A>G | XP_016884476.1:n.210-1793A>G | |
| XM_017028988.2:c.210-1793A>G | XP_016884477.1:n.210-1793A>G | |
| XM_024452280.1:c.-326+1047A>G | XP_024308048.1:n.-326+1047A>G | |
| XM_024452281.1:c.-422A>G | XP_024308049.1:n.-422A>G | |
| XM_024452282.1:c.-325-1793A>G | XP_024308050.1:n.-325-1793A>G | |
| XM_024452283.1:c.-281-1793A>G | XP_024308051.1:n.-281-1793A>G | |
| XM_024452284.1:c.-326+1047A>G | XP_024308052.1:n.-326+1047A>G | |
| XM_024452285.1:c.-422A>G | XP_024308053.1:n.-422A>G | |
| XR_001755325.2:n.302-1793A>G | ||
| XR_001755327.2:n.302-1793A>G | ||
| XR_001755328.2:n.302-1793A>G | ||
| XR_244390.3:n.302-1793A>G | ||
| XR_937938.3:n.302-1793A>G | ||
| XR_937939.3:n.302-1793A>G | ||
| XR_937940.3:n.302-1793A>G | ||
| NM_001199562.3:c.210-1793A>G | NP_001186491.1:n.210-1793A>G | |
| NM_001349864.2:c.210-1793A>G | NP_001336793.1:n.210-1793A>G | |
| NM_001349865.2:c.210-1793A>G | NP_001336794.1:n.210-1793A>G | |
| NM_001349866.2:c.210-1793A>G | NP_001336795.1:n.210-1793A>G | |
| NM_001349867.2:c.-326+1047A>G | NP_001336796.1:n.-326+1047A>G | |
| NM_001349868.2:c.-281-1793A>G | NP_001336797.1:n.-281-1793A>G | |
| NM_001349869.2:c.-326+1047A>G | NP_001336798.1:n.-326+1047A>G | |
| NM_003560.4:c.210-1793A>G MANE Select | NP_003551.2:n.210-1793A>G | |
| NM_001004426.3:c.210-1793A>G | NP_001004426.1:n.210-1793A>G |