Linked Data
dbSNP Id:
rs12193738
gnomAD v2:
6-24568393-T-C
gnomAD v3:
6-24568165-T-C
gnomAD v4:
6-24568165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24568165T>C , CM000668.2:g.24568165T>C | GRCh38 |
| NC_000006.11:g.24568393T>C , CM000668.1:g.24568393T>C | GRCh37 |
| NC_000006.10:g.24676372T>C | NCBI36 |
| NG_016206.1:g.82991A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378214.8:c.2140+616A>G MANE Select | ENSP00000367459.3:n.2140+616A>G | |
| ENST00000378214.7:c.2140+616A>G | ENSP00000367459.3:n.2140+616A>G | |
| ENST00000430948.6:c.2005+616A>G | ENSP00000401086.2:n.2005+616A>G | |
| ENST00000535378.5:c.2113+616A>G | ENSP00000442403.1:n.2113+616A>G | |
| ENST00000537886.5:c.2140+616A>G | ENSP00000439700.1:n.2140+616A>G | |
| ENST00000543707.2:c.2140+616A>G | ENSP00000437656.1:n.2140+616A>G | |
| ENST00000616673.4:c.373+616A>G | ENSP00000483665.1:n.373+616A>G | |
| NM_001168374.1:c.2113+616A>G | NP_001161846.1:n.2113+616A>G | |
| NM_001168375.1:c.2140+616A>G | NP_001161847.1:n.2140+616A>G | |
| NM_001168376.1:c.2005+616A>G | NP_001161848.1:n.2005+616A>G | |
| NM_001168377.1:c.2140+616A>G | NP_001161849.1:n.2140+616A>G | |
| NM_001252328.1:c.373+616A>G | NP_001239257.1:n.373+616A>G | |
| NM_014809.3:c.2140+616A>G | NP_055624.2:n.2140+616A>G | |
| XM_006715288.2:c.1684+616A>G | XP_006715351.1:n.1684+616A>G | |
| XM_011515022.1:c.2158+616A>G | XP_011513324.1:n.2158+616A>G | |
| XM_011515023.1:c.2158+616A>G | XP_011513325.1:n.2158+616A>G | |
| XM_011515024.1:c.2158+616A>G | XP_011513326.1:n.2158+616A>G | |
| XM_011515025.1:c.2140+616A>G | XP_011513327.1:n.2140+616A>G | |
| XM_011515026.1:c.2005+616A>G | XP_011513328.1:n.2005+616A>G | |
| XM_011515027.1:c.1075+616A>G | XP_011513329.1:n.1075+616A>G | |
| NM_001350403.1:c.2140+616A>G | NP_001337332.1:n.2140+616A>G | |
| NM_001350404.1:c.2122+616A>G | NP_001337333.1:n.2122+616A>G | |
| NM_001350405.1:c.2041+616A>G | NP_001337334.1:n.2041+616A>G | |
| NM_001350406.1:c.2005+616A>G | NP_001337335.1:n.2005+616A>G | |
| NM_001350407.1:c.2140+616A>G | NP_001337336.1:n.2140+616A>G | |
| NM_001350408.1:c.2140+616A>G | NP_001337337.1:n.2140+616A>G | |
| NM_001350409.1:c.1684+616A>G | NP_001337338.1:n.1684+616A>G | |
| NM_001350410.1:c.1684+616A>G | NP_001337339.1:n.1684+616A>G | |
| XM_011515026.3:c.2005+616A>G | XP_011513328.1:n.2005+616A>G | |
| XM_017011541.1:c.2113+616A>G | XP_016867030.1:n.2113+616A>G | |
| XM_017011542.2:c.2140+616A>G | XP_016867031.1:n.2140+616A>G | |
| XM_017011544.1:c.2041+616A>G | XP_016867033.1:n.2041+616A>G | |
| XM_017011546.2:c.2140+616A>G | XP_016867035.1:n.2140+616A>G | |
| XM_017011547.1:c.2140+616A>G | XP_016867036.1:n.2140+616A>G | |
| XM_017011550.1:c.2140+616A>G | XP_016867039.1:n.2140+616A>G | |
| XM_017011551.1:c.2140+616A>G | XP_016867040.1:n.2140+616A>G | |
| XR_001743779.1:n.2383+616A>G | ||
| XR_001743780.1:n.2383+616A>G | ||
| NM_014809.4:c.2140+616A>G MANE Select | NP_055624.2:n.2140+616A>G | |
| NM_001168375.2:c.2140+616A>G | NP_001161847.1:n.2140+616A>G | |
| NM_001350403.2:c.2140+616A>G | NP_001337332.1:n.2140+616A>G | |
| NM_001350404.2:c.2122+616A>G | NP_001337333.1:n.2122+616A>G | |
| NM_001350405.2:c.2041+616A>G | NP_001337334.1:n.2041+616A>G | |
| NM_001350406.2:c.2005+616A>G | NP_001337335.1:n.2005+616A>G | |
| NM_001350407.2:c.2140+616A>G | NP_001337336.1:n.2140+616A>G | |
| NM_001350408.2:c.2140+616A>G | NP_001337337.1:n.2140+616A>G | |
| NM_001350409.2:c.1684+616A>G | NP_001337338.1:n.1684+616A>G | |
| NM_001350410.2:c.1684+616A>G | NP_001337339.1:n.1684+616A>G | |
| NM_001168374.2:c.2113+616A>G | NP_001161846.1:n.2113+616A>G | |
| NM_001168376.2:c.2005+616A>G | NP_001161848.1:n.2005+616A>G | |
| NM_001168377.2:c.2140+616A>G | NP_001161849.1:n.2140+616A>G | |
| NM_001252328.2:c.373+616A>G | NP_001239257.1:n.373+616A>G |