Linked Data
dbSNP Id:
rs774909431
ExAC:
3:52327257 C / T
gnomAD v2:
3-52327257-C-T
gnomAD v3:
3-52293241-C-T
gnomAD v4:
3-52293241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293241C>T , CM000665.2:g.52293241C>T | GRCh38 |
| NC_000003.11:g.52327257C>T , CM000665.1:g.52327257C>T | GRCh37 |
| NC_000003.10:g.52302297C>T | NCBI36 |
| NG_023246.1:g.10422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.*115C>T MANE Select | ENSP00000389175.2:n.*115C>T | |
| ENST00000436784.6:c.*115C>T | ENSP00000389175.2:n.*115C>T | |
| ENST00000471180.5:c.*58+49C>T | ENSP00000417526.1:n.*58+49C>T | |
| ENST00000473032.5:c.*58+49C>T | ENSP00000418951.1:n.*58+49C>T | |
| ENST00000486393.5:c.*1050C>T | ENSP00000419868.1:n.*1050C>T | |
| ENST00000489173.1:n.1915-66C>T | ||
| NM_145262.3:c.*115C>T | NP_660305.2:n.*115C>T | |
| NR_026699.1:n.1785C>T | ||
| NR_026700.1:n.842+49C>T | ||
| NR_026701.1:n.1734+49C>T | ||
| NR_026702.1:n.772+49C>T | ||
| XM_005264878.2:c.*806C>T | XP_005264935.1:n.*806C>T | |
| XR_245095.2:n.2889+49C>T | ||
| XM_017005730.1:c.*115C>T | XP_016861219.1:n.*115C>T | |
| XM_024453351.1:c.*115C>T | XP_024309119.1:n.*115C>T | |
| XM_024453352.1:c.*806C>T | XP_024309120.1:n.*806C>T | |
| XR_001740022.2:n.3540+49C>T | ||
| XR_001740023.2:n.3064+49C>T | ||
| XR_245095.4:n.2890+49C>T | ||
| NM_145262.4:c.*115C>T MANE Select | NP_660305.2:n.*115C>T | |
| NR_026699.2:n.1777C>T | ||
| NR_026700.2:n.834+49C>T | ||
| NR_026701.2:n.1726+49C>T | ||
| NR_026702.2:n.764+49C>T | ||
| NM_001144951.2:c.*806C>T | NP_001138423.1:n.*806C>T |