Linked Data
dbSNP Id:
rs6534347
gnomAD v2:
4-123198435-A-G
gnomAD v3:
4-122277280-A-G
gnomAD v4:
4-122277280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122277280A>G , CM000666.2:g.122277280A>G | GRCh38 |
| NC_000004.11:g.123198435A>G , CM000666.1:g.123198435A>G | GRCh37 |
| NC_000004.10:g.123417885A>G | NCBI36 |
| NG_015813.1:g.111678A>G | |
| NG_015813.2:g.111678A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388738.8:c.8541-2495A>G | ENSP00000373390.4:n.8541-2495A>G | |
| ENST00000684987.1:n.10172A>G | ||
| ENST00000686093.1:c.446+1258A>G | ENSP00000509672.1:n.446+1258A>G | |
| ENST00000690536.1:n.8864-2495A>G | ||
| ENST00000693334.1:n.8864-2495A>G | ||
| ENST00000693420.1:c.8541-2495A>G | ENSP00000509435.1:n.8541-2495A>G | |
| ENST00000679879.1:c.8591+1258A>G MANE Select | ENSP00000505357.1:n.8591+1258A>G | |
| ENST00000264501.8:c.8591+1258A>G | ENSP00000264501.4:n.8591+1258A>G | |
| ENST00000388738.7:c.8591+1258A>G | ENSP00000373390.3:n.8591+1258A>G | |
| ENST00000419325.5:c.2463+1258A>G | ||
| NM_015312.3:c.8591+1258A>G | NP_056127.2:n.8591+1258A>G | |
| XM_005263282.1:c.8591+1258A>G | XP_005263339.1:n.8591+1258A>G | |
| XM_005263287.1:c.8591+1258A>G | XP_005263344.1:n.8591+1258A>G | |
| XM_006714343.1:c.8591+1258A>G | XP_006714406.1:n.8591+1258A>G | |
| XM_006714344.1:c.8588+1258A>G | XP_006714407.1:n.8588+1258A>G | |
| XM_011532319.1:c.8591+1258A>G | XP_011530621.1:n.8591+1258A>G | |
| XM_011532320.1:c.8591+1258A>G | XP_011530622.1:n.8591+1258A>G | |
| XM_011532321.1:c.8591+1258A>G | XP_011530623.1:n.8591+1258A>G | |
| XM_011532322.1:c.8588+1258A>G | XP_011530624.1:n.8588+1258A>G | |
| XM_011532323.1:c.8541-2495A>G | XP_011530625.1:n.8541-2495A>G | |
| XM_011532324.1:c.8591+1258A>G | XP_011530626.1:n.8591+1258A>G | |
| XM_011532325.1:c.8591+1258A>G | XP_011530627.1:n.8591+1258A>G | |
| XM_011532326.1:c.8462+1258A>G | XP_011530628.1:n.8462+1258A>G | |
| XM_011532327.1:c.8441+1258A>G | XP_011530629.1:n.8441+1258A>G | |
| XM_011532328.1:c.8591+1258A>G | XP_011530630.1:n.8591+1258A>G | |
| XM_011532329.1:c.8591+1258A>G | XP_011530631.1:n.8591+1258A>G | |
| XM_011532330.1:c.6842+1258A>G | XP_011530632.1:n.6842+1258A>G | |
| XM_011532331.1:c.8591+1258A>G | XP_011530633.1:n.8591+1258A>G | |
| XR_938781.1:n.8964+1258A>G | ||
| XR_938782.1:n.8964+1258A>G | ||
| XR_938783.1:n.8964+1258A>G | ||
| XM_011532320.3:c.8591+1258A>G | XP_011530622.1:n.8591+1258A>G | |
| XM_011532321.2:c.8591+1258A>G | XP_011530623.1:n.8591+1258A>G | |
| XM_017008695.1:c.8591+1258A>G | XP_016864184.1:n.8591+1258A>G | |
| XM_017008696.1:c.8541-2495A>G | XP_016864185.1:n.8541-2495A>G | |
| XM_017008697.1:c.8591+1258A>G | XP_016864186.1:n.8591+1258A>G | |
| XM_017008698.1:c.5822+1258A>G | XP_016864187.1:n.5822+1258A>G | |
| XM_017008699.1:c.8541-1077A>G | XP_016864188.1:n.8541-1077A>G | |
| XM_024454243.1:c.6743+1258A>G | XP_024310011.1:n.6743+1258A>G | |
| XR_001741335.2:n.8964+1258A>G | ||
| XR_001741336.1:n.8964+1258A>G | ||
| XR_001741337.1:n.8914-1077A>G | ||
| NM_001384125.1:c.8591+1258A>G MANE Select | NP_001371054.1:n.8591+1258A>G | |
| NM_015312.4:c.8591+1258A>G | NP_056127.2:n.8591+1258A>G |