Linked Data
dbSNP Id:
rs865778756
gnomAD v2:
3-52327243-C-T
gnomAD v3:
3-52293227-C-T
gnomAD v4:
3-52293227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293227C>T , CM000665.2:g.52293227C>T | GRCh38 |
| NC_000003.11:g.52327243C>T , CM000665.1:g.52327243C>T | GRCh37 |
| NC_000003.10:g.52302283C>T | NCBI36 |
| NG_023246.1:g.10408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.*101C>T MANE Select | ENSP00000389175.2:n.*101C>T | |
| ENST00000436784.6:c.*101C>T | ENSP00000389175.2:n.*101C>T | |
| ENST00000471180.5:c.*58+35C>T | ENSP00000417526.1:n.*58+35C>T | |
| ENST00000473032.5:c.*58+35C>T | ENSP00000418951.1:n.*58+35C>T | |
| ENST00000486393.5:c.*1036C>T | ENSP00000419868.1:n.*1036C>T | |
| ENST00000489173.1:n.1914+53C>T | ||
| NM_145262.3:c.*101C>T | NP_660305.2:n.*101C>T | |
| NR_026699.1:n.1771C>T | ||
| NR_026700.1:n.842+35C>T | ||
| NR_026701.1:n.1734+35C>T | ||
| NR_026702.1:n.772+35C>T | ||
| XM_005264878.2:c.*792C>T | XP_005264935.1:n.*792C>T | |
| XR_245095.2:n.2889+35C>T | ||
| XM_017005730.1:c.*101C>T | XP_016861219.1:n.*101C>T | |
| XM_024453351.1:c.*101C>T | XP_024309119.1:n.*101C>T | |
| XM_024453352.1:c.*792C>T | XP_024309120.1:n.*792C>T | |
| XR_001740022.2:n.3540+35C>T | ||
| XR_001740023.2:n.3064+35C>T | ||
| XR_245095.4:n.2890+35C>T | ||
| NM_145262.4:c.*101C>T MANE Select | NP_660305.2:n.*101C>T | |
| NR_026699.2:n.1763C>T | ||
| NR_026700.2:n.834+35C>T | ||
| NR_026701.2:n.1726+35C>T | ||
| NR_026702.2:n.764+35C>T | ||
| NM_001144951.2:c.*792C>T | NP_001138423.1:n.*792C>T |