Linked Data
dbSNP Id:
rs2038137
gnomAD v2:
6-24645943-T-G
gnomAD v3:
6-24645715-T-G
gnomAD v4:
6-24645715-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24645715T>G , CM000668.2:g.24645715T>G | GRCh38 |
| NC_000006.11:g.24645943T>G , CM000668.1:g.24645943T>G | GRCh37 |
| NC_000006.10:g.24753922T>G | NCBI36 |
| NG_016206.1:g.5441A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378214.8:c.-106+21A>C MANE Select | ENSP00000367459.3:n.-106+21A>C | |
| ENST00000378214.7:c.-106+21A>C | ENSP00000367459.3:n.-106+21A>C | |
| ENST00000430948.6:c.-169A>C | ENSP00000401086.2:n.-169A>C | |
| ENST00000535378.5:c.-224+21A>C | ENSP00000442403.1:n.-224+21A>C | |
| ENST00000537886.5:c.-106+21A>C | ENSP00000439700.1:n.-106+21A>C | |
| ENST00000543707.2:c.-106+21A>C | ENSP00000437656.1:n.-106+21A>C | |
| NM_001168374.1:c.-224+21A>C | NP_001161846.1:n.-224+21A>C | |
| NM_001168375.1:c.-194A>C | NP_001161847.1:n.-194A>C | |
| NM_001168376.1:c.-169A>C | NP_001161848.1:n.-169A>C | |
| NM_001168377.1:c.-106+21A>C | NP_001161849.1:n.-106+21A>C | |
| NM_014809.3:c.-106+21A>C | NP_055624.2:n.-106+21A>C | |
| XM_011515022.1:c.-194A>C | XP_011513324.1:n.-194A>C | |
| XM_011515023.1:c.-106+21A>C | XP_011513325.1:n.-106+21A>C | |
| XM_011515024.1:c.-106+320A>C | XP_011513326.1:n.-106+320A>C | |
| XM_011515025.1:c.-106+320A>C | XP_011513327.1:n.-106+320A>C | |
| NM_001350403.1:c.-106+320A>C | NP_001337332.1:n.-106+320A>C | |
| NM_001350404.1:c.37+21A>C | NP_001337333.1:n.37+21A>C | |
| NM_001350405.1:c.-194A>C | NP_001337334.1:n.-194A>C | |
| NM_001350406.1:c.-81+320A>C | NP_001337335.1:n.-81+320A>C | |
| NM_001350407.1:c.-106+320A>C | NP_001337336.1:n.-106+320A>C | |
| NM_001350408.1:c.-106+21A>C | NP_001337337.1:n.-106+21A>C | |
| NM_001350409.1:c.-366+320A>C | NP_001337338.1:n.-366+320A>C | |
| NM_001350410.1:c.-366+21A>C | NP_001337339.1:n.-366+21A>C | |
| XM_017011541.1:c.-312A>C | XP_016867030.1:n.-312A>C | |
| XM_017011542.2:c.-194A>C | XP_016867031.1:n.-194A>C | |
| XM_017011544.1:c.-106+21A>C | XP_016867033.1:n.-106+21A>C | |
| XM_017011546.2:c.-194A>C | XP_016867035.1:n.-194A>C | |
| XM_017011547.1:c.-194A>C | XP_016867036.1:n.-194A>C | |
| XM_017011550.1:c.-194A>C | XP_016867039.1:n.-194A>C | |
| XM_017011551.1:c.-194A>C | XP_016867040.1:n.-194A>C | |
| XR_001743779.1:n.50A>C | ||
| XR_001743780.1:n.50A>C | ||
| NM_014809.4:c.-106+21A>C MANE Select | NP_055624.2:n.-106+21A>C | |
| NM_001168375.2:c.-194A>C | NP_001161847.1:n.-194A>C | |
| NM_001350403.2:c.-106+320A>C | NP_001337332.1:n.-106+320A>C | |
| NM_001350404.2:c.37+21A>C | NP_001337333.1:n.37+21A>C | |
| NM_001350405.2:c.-194A>C | NP_001337334.1:n.-194A>C | |
| NM_001350406.2:c.-81+320A>C | NP_001337335.1:n.-81+320A>C | |
| NM_001350407.2:c.-106+320A>C | NP_001337336.1:n.-106+320A>C | |
| NM_001350408.2:c.-106+21A>C | NP_001337337.1:n.-106+21A>C | |
| NM_001350409.2:c.-366+320A>C | NP_001337338.1:n.-366+320A>C | |
| NM_001350410.2:c.-366+21A>C | NP_001337339.1:n.-366+21A>C | |
| NM_001168374.2:c.-224+21A>C | NP_001161846.1:n.-224+21A>C | |
| NM_001168376.2:c.-169A>C | NP_001161848.1:n.-169A>C | |
| NM_001168377.2:c.-106+21A>C | NP_001161849.1:n.-106+21A>C |