Linked Data
dbSNP Id:
rs554137598
gnomAD v2:
6-24545010-A-C
gnomAD v3:
6-24544782-A-C
gnomAD v4:
6-24544782-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24544782A>C , CM000668.2:g.24544782A>C | GRCh38 |
| NC_000006.11:g.24545010A>C , CM000668.1:g.24545010A>C | GRCh37 |
| NC_000006.10:g.24652989A>C | NCBI36 |
| NG_016206.1:g.106374T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378214.8:c.*2383T>G MANE Select | ENSP00000367459.3:n.*2383T>G | |
| ENST00000378214.7:c.*2383T>G | ENSP00000367459.3:n.*2383T>G | |
| ENST00000430948.6:c.*2383T>G | ENSP00000401086.2:n.*2383T>G | |
| ENST00000535378.5:c.*2383T>G | ENSP00000442403.1:n.*2383T>G | |
| ENST00000537886.5:c.*2383T>G | ENSP00000439700.1:n.*2383T>G | |
| ENST00000616673.4:c.*2383T>G | ENSP00000483665.1:n.*2383T>G | |
| NM_001168374.1:c.*2383T>G | NP_001161846.1:n.*2383T>G | |
| NM_001168375.1:c.*2383T>G | NP_001161847.1:n.*2383T>G | |
| NM_001168376.1:c.*2383T>G | NP_001161848.1:n.*2383T>G | |
| NM_001168377.1:c.*2383T>G | NP_001161849.1:n.*2383T>G | |
| NM_001252328.1:c.*2383T>G | NP_001239257.1:n.*2383T>G | |
| NM_014809.3:c.*2383T>G | NP_055624.2:n.*2383T>G | |
| XM_006715288.2:c.*2383T>G | XP_006715351.1:n.*2383T>G | |
| XM_011515022.1:c.*2383T>G | XP_011513324.1:n.*2383T>G | |
| XM_011515023.1:c.*2383T>G | XP_011513325.1:n.*2383T>G | |
| XM_011515024.1:c.*2383T>G | XP_011513326.1:n.*2383T>G | |
| XM_011515025.1:c.*2383T>G | XP_011513327.1:n.*2383T>G | |
| XM_011515026.1:c.*2383T>G | XP_011513328.1:n.*2383T>G | |
| XM_011515027.1:c.*2383T>G | XP_011513329.1:n.*2383T>G | |
| NM_001350403.1:c.*2383T>G | NP_001337332.1:n.*2383T>G | |
| NM_001350404.1:c.*2383T>G | NP_001337333.1:n.*2383T>G | |
| NM_001350405.1:c.*2383T>G | NP_001337334.1:n.*2383T>G | |
| NM_001350406.1:c.*2383T>G | NP_001337335.1:n.*2383T>G | |
| NM_001350407.1:c.*2574T>G | NP_001337336.1:n.*2574T>G | |
| NM_001350408.1:c.*2574T>G | NP_001337337.1:n.*2574T>G | |
| NM_001350409.1:c.*2383T>G | NP_001337338.1:n.*2383T>G | |
| NM_001350410.1:c.*2383T>G | NP_001337339.1:n.*2383T>G | |
| XM_011515026.3:c.*2383T>G | XP_011513328.1:n.*2383T>G | |
| XM_017011541.1:c.*2383T>G | XP_016867030.1:n.*2383T>G | |
| XM_017011542.2:c.3041-3437T>G | XP_016867031.1:n.3041-3437T>G | |
| XM_017011544.1:c.*2383T>G | XP_016867033.1:n.*2383T>G | |
| XM_017011546.2:c.2858-3437T>G | XP_016867035.1:n.2858-3437T>G | |
| XM_017011547.1:c.*2574T>G | XP_016867036.1:n.*2574T>G | |
| XM_017011550.1:c.*13-3437T>G | XP_016867039.1:n.*13-3437T>G | |
| XM_017011551.1:c.*2574T>G | XP_016867040.1:n.*2574T>G | |
| XR_001743779.1:n.5835T>G | ||
| XR_001743780.1:n.5744T>G | ||
| NM_014809.4:c.*2383T>G MANE Select | NP_055624.2:n.*2383T>G | |
| NM_001168375.2:c.*2383T>G | NP_001161847.1:n.*2383T>G | |
| NM_001350403.2:c.*2383T>G | NP_001337332.1:n.*2383T>G | |
| NM_001350404.2:c.*2383T>G | NP_001337333.1:n.*2383T>G | |
| NM_001350405.2:c.*2383T>G | NP_001337334.1:n.*2383T>G | |
| NM_001350406.2:c.*2383T>G | NP_001337335.1:n.*2383T>G | |
| NM_001350407.2:c.*2574T>G | NP_001337336.1:n.*2574T>G | |
| NM_001350408.2:c.*2574T>G | NP_001337337.1:n.*2574T>G | |
| NM_001350409.2:c.*2383T>G | NP_001337338.1:n.*2383T>G | |
| NM_001350410.2:c.*2383T>G | NP_001337339.1:n.*2383T>G | |
| NM_001168374.2:c.*2383T>G | NP_001161846.1:n.*2383T>G | |
| NM_001168376.2:c.*2383T>G | NP_001161848.1:n.*2383T>G | |
| NM_001168377.2:c.*2383T>G | NP_001161849.1:n.*2383T>G | |
| NM_001252328.2:c.*2383T>G | NP_001239257.1:n.*2383T>G |