Linked Data
ClinVar Variation Id:
1242599
ClinVar RCV Id:
RCV001641403
dbSNP Id:
rs7131265
gnomAD v2:
11-85714605-T-C
gnomAD v3:
11-86003562-T-C
gnomAD v4:
11-86003562-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86003562T>C , CM000673.2:g.86003562T>C | GRCh38 |
| NC_000011.9:g.85714605T>C , CM000673.1:g.85714605T>C | GRCh37 |
| NC_000011.8:g.85392253T>C | NCBI36 |
| NG_028942.1:g.71319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393346.8:c.808-111A>G MANE Select | ENSP00000377015.3:n.808-111A>G | |
| ENST00000356360.9:c.808-111A>G | ENSP00000348718.5:n.808-111A>G | |
| ENST00000393346.7:c.808-111A>G | ENSP00000377015.3:n.808-111A>G | |
| ENST00000526033.5:c.808-111A>G | ENSP00000433846.1:n.808-111A>G | |
| ENST00000528398.5:c.655-111A>G | ENSP00000434884.1:n.655-111A>G | |
| ENST00000532317.5:c.808-111A>G | ENSP00000436958.1:n.808-111A>G | |
| ENST00000533350.1:n.217A>G | ||
| ENST00000534412.5:c.*339-111A>G | ENSP00000435499.1:n.*339-111A>G | |
| ENST00000630913.2:c.*414-111A>G | ENSP00000487119.1:n.*414-111A>G | |
| NM_001008660.2:c.808-111A>G | NP_001008660.1:n.808-111A>G | |
| NM_001206946.1:c.808-111A>G | NP_001193875.1:n.808-111A>G | |
| NM_001206947.1:c.655-111A>G | NP_001193876.1:n.655-111A>G | |
| NM_007166.3:c.808-111A>G | NP_009097.2:n.808-111A>G | |
| XM_005274322.2:c.808-111A>G | XP_005274379.1:n.808-111A>G | |
| XM_005274323.2:c.808-111A>G | XP_005274380.1:n.808-111A>G | |
| XM_005274324.2:c.808-111A>G | XP_005274381.1:n.808-111A>G | |
| XM_005274325.2:c.808-111A>G | XP_005274382.1:n.808-111A>G | |
| XM_005274326.2:c.808-111A>G | XP_005274383.1:n.808-111A>G | |
| XM_005274327.2:c.808-111A>G | XP_005274384.1:n.808-111A>G | |
| XM_005274328.2:c.808-111A>G | XP_005274385.1:n.808-111A>G | |
| XM_005274329.2:c.808-111A>G | XP_005274386.1:n.808-111A>G | |
| XM_005274330.2:c.808-111A>G | XP_005274387.1:n.808-111A>G | |
| XM_005274331.2:c.808-111A>G | XP_005274388.1:n.808-111A>G | |
| XM_005274332.2:c.808-111A>G | XP_005274389.1:n.808-111A>G | |
| XM_005274333.2:c.808-111A>G | XP_005274390.1:n.808-111A>G | |
| XM_005274334.2:c.808-111A>G | XP_005274391.1:n.808-111A>G | |
| XM_005274335.2:c.808-111A>G | XP_005274392.1:n.808-111A>G | |
| XM_005274336.2:c.808-111A>G | XP_005274393.1:n.808-111A>G | |
| XM_005274337.2:c.808-111A>G | XP_005274394.1:n.808-111A>G | |
| XM_005274340.2:c.808-111A>G | XP_005274397.1:n.808-111A>G | |
| XM_006718699.2:c.808-111A>G | XP_006718762.1:n.808-111A>G | |
| XM_006718700.2:c.808-111A>G | XP_006718763.1:n.808-111A>G | |
| XM_006718701.2:c.808-111A>G | XP_006718764.1:n.808-111A>G | |
| XM_011545293.1:c.808-111A>G | XP_011543595.1:n.808-111A>G | |
| XM_005274322.3:c.808-111A>G | XP_005274379.1:n.808-111A>G | |
| XM_005274323.3:c.808-111A>G | XP_005274380.1:n.808-111A>G | |
| XM_005274324.3:c.808-111A>G | XP_005274381.1:n.808-111A>G | |
| XM_005274325.3:c.808-111A>G | XP_005274382.1:n.808-111A>G | |
| XM_005274326.3:c.808-111A>G | XP_005274383.1:n.808-111A>G | |
| XM_005274327.3:c.808-111A>G | XP_005274384.1:n.808-111A>G | |
| XM_005274328.3:c.808-111A>G | XP_005274385.1:n.808-111A>G | |
| XM_005274329.4:c.808-111A>G | XP_005274386.1:n.808-111A>G | |
| XM_005274330.3:c.808-111A>G | XP_005274387.1:n.808-111A>G | |
| XM_005274331.3:c.808-111A>G | XP_005274388.1:n.808-111A>G | |
| XM_005274332.3:c.808-111A>G | XP_005274389.1:n.808-111A>G | |
| XM_005274333.3:c.808-111A>G | XP_005274390.1:n.808-111A>G | |
| XM_005274334.3:c.808-111A>G | XP_005274391.1:n.808-111A>G | |
| XM_005274335.3:c.808-111A>G | XP_005274392.1:n.808-111A>G | |
| XM_005274336.3:c.808-111A>G | XP_005274393.1:n.808-111A>G | |
| XM_005274337.3:c.808-111A>G | XP_005274394.1:n.808-111A>G | |
| XM_005274340.3:c.808-111A>G | XP_005274397.1:n.808-111A>G | |
| XM_006718699.3:c.808-111A>G | XP_006718762.1:n.808-111A>G | |
| XM_006718700.3:c.808-111A>G | XP_006718763.1:n.808-111A>G | |
| XM_006718701.4:c.808-111A>G | XP_006718764.1:n.808-111A>G | |
| XM_011545293.2:c.808-111A>G | XP_011543595.1:n.808-111A>G | |
| XM_017018381.2:c.808-111A>G | XP_016873870.1:n.808-111A>G | |
| XM_017018382.2:c.808-111A>G | XP_016873871.1:n.808-111A>G | |
| XM_017018383.2:c.808-111A>G | XP_016873872.1:n.808-111A>G | |
| XM_017018384.2:c.808-111A>G | XP_016873873.1:n.808-111A>G | |
| XM_017018385.2:c.808-111A>G | XP_016873874.1:n.808-111A>G | |
| XM_017018386.2:c.808-111A>G | XP_016873875.1:n.808-111A>G | |
| XM_017018387.2:c.808-111A>G | XP_016873876.1:n.808-111A>G | |
| XM_017018388.2:c.808-111A>G | XP_016873877.1:n.808-111A>G | |
| XM_024448700.1:c.808-111A>G | XP_024304468.1:n.808-111A>G | |
| NM_007166.4:c.808-111A>G MANE Select | NP_009097.2:n.808-111A>G | |
| NM_001008660.3:c.808-111A>G | NP_001008660.1:n.808-111A>G | |
| NM_001206946.2:c.808-111A>G | NP_001193875.1:n.808-111A>G | |
| NM_001206947.2:c.655-111A>G | NP_001193876.1:n.655-111A>G |