Linked Data
ClinVar Variation Id:
1942149
ClinVar RCV Id:
RCV002653735
dbSNP Id:
rs761904651
gnomAD v2:
3-52326856-G-T
gnomAD v4:
3-52292840-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292840G>T , CM000665.2:g.52292840G>T | GRCh38 |
| NC_000003.11:g.52326856G>T , CM000665.1:g.52326856G>T | GRCh37 |
| NC_000003.10:g.52301896G>T | NCBI36 |
| NG_023246.1:g.10021G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1286G>T MANE Select | ENSP00000389175.2:p.Arg429Leu | |
| ENST00000305690.12:c.*405G>T | ENSP00000301965.9:n.*405G>T | |
| ENST00000436784.6:c.1286G>T | ENSP00000389175.2:p.Arg429Leu | |
| ENST00000461183.5:c.764-206G>T | ENSP00000417264.1:n.764-206G>T | |
| ENST00000471180.5:c.635-206G>T | ENSP00000417526.1:n.635-206G>T | |
| ENST00000473032.5:c.530-206G>T | ENSP00000418951.1:n.530-206G>T | |
| ENST00000477382.1:c.*405G>T | ENSP00000419008.1:n.*405G>T | |
| ENST00000486393.5:c.*649G>T | ENSP00000419868.1:n.*649G>T | |
| ENST00000489173.1:n.1580G>T | ||
| NM_001144951.1:c.*405G>T | NP_001138423.1:n.*405G>T | |
| NM_145262.3:c.1286G>T | NP_660305.2:p.Arg429Leu | |
| NR_026699.1:n.1384G>T | ||
| NR_026700.1:n.696-206G>T | ||
| NR_026701.1:n.1382G>T | ||
| NR_026702.1:n.626-206G>T | ||
| XM_005264878.2:c.*405G>T | XP_005264935.1:n.*405G>T | |
| XR_245095.2:n.2743-206G>T | ||
| XM_017005730.1:c.905G>T | XP_016861219.1:p.Arg302Leu | |
| XM_024453351.1:c.1286G>T | XP_024309119.1:p.Arg429Leu | |
| XM_024453352.1:c.*405G>T | XP_024309120.1:n.*405G>T | |
| XR_001740022.2:n.3188G>T | ||
| XR_001740023.2:n.2918-206G>T | ||
| XR_245095.4:n.2744-206G>T | ||
| NM_145262.4:c.1286G>T MANE Select | NP_660305.2:p.Arg429Leu | |
| NR_026699.2:n.1376G>T | ||
| NR_026700.2:n.688-206G>T | ||
| NR_026701.2:n.1374G>T | ||
| NR_026702.2:n.618-206G>T | ||
| NM_001144951.2:c.*405G>T | NP_001138423.1:n.*405G>T |