Linked Data
ClinVar Variation Id:
3059261
ClinVar RCV Id:
RCV003979818
dbSNP Id:
rs4576240
ExAC:
6:24596478 T / G
gnomAD v2:
6-24596478-T-G
gnomAD v3:
6-24596250-T-G
gnomAD v4:
6-24596250-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24596250T>G , CM000668.2:g.24596250T>G | GRCh38 |
| NC_000006.11:g.24596478T>G , CM000668.1:g.24596478T>G | GRCh37 |
| NC_000006.10:g.24704457T>G | NCBI36 |
| NG_016206.1:g.54906A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378214.8:c.424A>C MANE Select | ENSP00000367459.3:p.Thr142Pro | |
| ENST00000378214.7:c.424A>C | ENSP00000367459.3:p.Thr142Pro | |
| ENST00000430948.6:c.289A>C | ENSP00000401086.2:p.Thr97Pro | |
| ENST00000535378.5:c.397A>C | ENSP00000442403.1:p.Thr133Pro | |
| ENST00000537886.5:c.424A>C | ENSP00000439700.1:p.Thr142Pro | |
| ENST00000543707.2:c.424A>C | ENSP00000437656.1:p.Thr142Pro | |
| NM_001168374.1:c.397A>C | NP_001161846.1:p.Thr133Pro | |
| NM_001168375.1:c.424A>C | NP_001161847.1:p.Thr142Pro | |
| NM_001168376.1:c.289A>C | NP_001161848.1:p.Thr97Pro | |
| NM_001168377.1:c.424A>C | NP_001161849.1:p.Thr142Pro | |
| NM_014809.3:c.424A>C | NP_055624.2:p.Thr142Pro | |
| XM_006715288.2:c.-23-10A>C | XP_006715351.1:n.-23-10A>C | |
| XM_011515022.1:c.442A>C | XP_011513324.1:p.Thr148Pro | |
| XM_011515023.1:c.442A>C | XP_011513325.1:p.Thr148Pro | |
| XM_011515024.1:c.442A>C | XP_011513326.1:p.Thr148Pro | |
| XM_011515025.1:c.424A>C | XP_011513327.1:p.Thr142Pro | |
| XM_011515026.1:c.289A>C | XP_011513328.1:p.Thr97Pro | |
| NM_001350403.1:c.424A>C | NP_001337332.1:p.Thr142Pro | |
| NM_001350404.1:c.406A>C | NP_001337333.1:p.Thr136Pro | |
| NM_001350405.1:c.424A>C | NP_001337334.1:p.Thr142Pro | |
| NM_001350406.1:c.289A>C | NP_001337335.1:p.Thr97Pro | |
| NM_001350407.1:c.424A>C | NP_001337336.1:p.Thr142Pro | |
| NM_001350408.1:c.424A>C | NP_001337337.1:p.Thr142Pro | |
| NM_001350409.1:c.-23-10A>C | NP_001337338.1:n.-23-10A>C | |
| NM_001350410.1:c.-23-10A>C | NP_001337339.1:n.-23-10A>C | |
| XM_011515026.3:c.289A>C | XP_011513328.1:p.Thr97Pro | |
| XM_017011541.1:c.397A>C | XP_016867030.1:p.Thr133Pro | |
| XM_017011542.2:c.424A>C | XP_016867031.1:p.Thr142Pro | |
| XM_017011544.1:c.424A>C | XP_016867033.1:p.Thr142Pro | |
| XM_017011546.2:c.424A>C | XP_016867035.1:p.Thr142Pro | |
| XM_017011547.1:c.424A>C | XP_016867036.1:p.Thr142Pro | |
| XM_017011550.1:c.424A>C | XP_016867039.1:p.Thr142Pro | |
| XM_017011551.1:c.424A>C | XP_016867040.1:p.Thr142Pro | |
| XR_001743779.1:n.667A>C | ||
| XR_001743780.1:n.667A>C | ||
| NM_014809.4:c.424A>C MANE Select | NP_055624.2:p.Thr142Pro | |
| NM_001168375.2:c.424A>C | NP_001161847.1:p.Thr142Pro | |
| NM_001350403.2:c.424A>C | NP_001337332.1:p.Thr142Pro | |
| NM_001350404.2:c.406A>C | NP_001337333.1:p.Thr136Pro | |
| NM_001350405.2:c.424A>C | NP_001337334.1:p.Thr142Pro | |
| NM_001350406.2:c.289A>C | NP_001337335.1:p.Thr97Pro | |
| NM_001350407.2:c.424A>C | NP_001337336.1:p.Thr142Pro | |
| NM_001350408.2:c.424A>C | NP_001337337.1:p.Thr142Pro | |
| NM_001350409.2:c.-23-10A>C | NP_001337338.1:n.-23-10A>C | |
| NM_001350410.2:c.-23-10A>C | NP_001337339.1:n.-23-10A>C | |
| NM_001168374.2:c.397A>C | NP_001161846.1:p.Thr133Pro | |
| NM_001168376.2:c.289A>C | NP_001161848.1:p.Thr97Pro | |
| NM_001168377.2:c.424A>C | NP_001161849.1:p.Thr142Pro |