Linked Data
dbSNP Id:
rs751088590
ExAC:
3:52326892 C / T
gnomAD v2:
3-52326892-C-T
gnomAD v3:
3-52292876-C-T
gnomAD v4:
3-52292876-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292876C>T , CM000665.2:g.52292876C>T | GRCh38 |
| NC_000003.11:g.52326892C>T , CM000665.1:g.52326892C>T | GRCh37 |
| NC_000003.10:g.52301932C>T | NCBI36 |
| NG_023246.1:g.10057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1322C>T MANE Select | ENSP00000389175.2:p.Pro441Leu | |
| ENST00000305690.12:c.*441C>T | ENSP00000301965.9:n.*441C>T | |
| ENST00000436784.6:c.1322C>T | ENSP00000389175.2:p.Pro441Leu | |
| ENST00000461183.5:c.764-170C>T | ENSP00000417264.1:n.764-170C>T | |
| ENST00000471180.5:c.635-170C>T | ENSP00000417526.1:n.635-170C>T | |
| ENST00000473032.5:c.530-170C>T | ENSP00000418951.1:n.530-170C>T | |
| ENST00000477382.1:c.*441C>T | ENSP00000419008.1:n.*441C>T | |
| ENST00000486393.5:c.*685C>T | ENSP00000419868.1:n.*685C>T | |
| ENST00000489173.1:n.1616C>T | ||
| NM_001144951.1:c.*441C>T | NP_001138423.1:n.*441C>T | |
| NM_145262.3:c.1322C>T | NP_660305.2:p.Pro441Leu | |
| NR_026699.1:n.1420C>T | ||
| NR_026700.1:n.696-170C>T | ||
| NR_026701.1:n.1418C>T | ||
| NR_026702.1:n.626-170C>T | ||
| XM_005264878.2:c.*441C>T | XP_005264935.1:n.*441C>T | |
| XR_245095.2:n.2743-170C>T | ||
| XM_017005730.1:c.941C>T | XP_016861219.1:p.Pro314Leu | |
| XM_024453351.1:c.1322C>T | XP_024309119.1:p.Pro441Leu | |
| XM_024453352.1:c.*441C>T | XP_024309120.1:n.*441C>T | |
| XR_001740022.2:n.3224C>T | ||
| XR_001740023.2:n.2918-170C>T | ||
| XR_245095.4:n.2744-170C>T | ||
| NM_145262.4:c.1322C>T MANE Select | NP_660305.2:p.Pro441Leu | |
| NR_026699.2:n.1412C>T | ||
| NR_026700.2:n.688-170C>T | ||
| NR_026701.2:n.1410C>T | ||
| NR_026702.2:n.618-170C>T | ||
| NM_001144951.2:c.*441C>T | NP_001138423.1:n.*441C>T |