Linked Data
dbSNP Id:
rs144669248
ExAC:
3:52327071 C / T
gnomAD v2:
3-52327071-C-T
gnomAD v3:
3-52293055-C-T
gnomAD v4:
3-52293055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293055C>T , CM000665.2:g.52293055C>T | GRCh38 |
| NC_000003.11:g.52327071C>T , CM000665.1:g.52327071C>T | GRCh37 |
| NC_000003.10:g.52302111C>T | NCBI36 |
| NG_023246.1:g.10236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1501C>T MANE Select | ENSP00000389175.2:p.His501Tyr | |
| ENST00000436784.6:c.1501C>T | ENSP00000389175.2:p.His501Tyr | |
| ENST00000461183.5:c.773C>T | ENSP00000417264.1:p.Thr258Ile | |
| ENST00000471180.5:c.644C>T | ENSP00000417526.1:p.Thr215Ile | |
| ENST00000473032.5:c.539C>T | ENSP00000418951.1:p.Thr180Ile | |
| ENST00000486393.5:c.*864C>T | ENSP00000419868.1:n.*864C>T | |
| ENST00000489173.1:n.1795C>T | ||
| NM_145262.3:c.1501C>T | NP_660305.2:p.His501Tyr | |
| NR_026699.1:n.1599C>T | ||
| NR_026700.1:n.705C>T | ||
| NR_026701.1:n.1597C>T | ||
| NR_026702.1:n.635C>T | ||
| XM_005264878.2:c.*620C>T | XP_005264935.1:n.*620C>T | |
| XR_245095.2:n.2752C>T | ||
| XM_017005730.1:c.1120C>T | XP_016861219.1:p.His374Tyr | |
| XM_024453351.1:c.1501C>T | XP_024309119.1:p.His501Tyr | |
| XM_024453352.1:c.*620C>T | XP_024309120.1:n.*620C>T | |
| XR_001740022.2:n.3403C>T | ||
| XR_001740023.2:n.2927C>T | ||
| XR_245095.4:n.2753C>T | ||
| NM_145262.4:c.1501C>T MANE Select | NP_660305.2:p.His501Tyr | |
| NR_026699.2:n.1591C>T | ||
| NR_026700.2:n.697C>T | ||
| NR_026701.2:n.1589C>T | ||
| NR_026702.2:n.627C>T | ||
| NM_001144951.2:c.*620C>T | NP_001138423.1:n.*620C>T |