Linked Data
ClinVar Variation Id:
3030611
ClinVar RCV Id:
RCV003901807
dbSNP Id:
rs1174681511
gnomAD v4:
3-52293045-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293045G>A , CM000665.2:g.52293045G>A | GRCh38 |
| NC_000003.11:g.52327061G>A , CM000665.1:g.52327061G>A | GRCh37 |
| NC_000003.10:g.52302101G>A | NCBI36 |
| NG_023246.1:g.10226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1491G>A MANE Select | ENSP00000389175.2:p.Gln497= | |
| ENST00000436784.6:c.1491G>A | ENSP00000389175.2:p.Gln497= | |
| ENST00000461183.5:c.764-1G>A | ENSP00000417264.1:n.764-1G>A | |
| ENST00000471180.5:c.635-1G>A | ENSP00000417526.1:n.635-1G>A | |
| ENST00000473032.5:c.530-1G>A | ENSP00000418951.1:n.530-1G>A | |
| ENST00000486393.5:c.*854G>A | ENSP00000419868.1:n.*854G>A | |
| ENST00000489173.1:n.1785G>A | ||
| NM_145262.3:c.1491G>A | NP_660305.2:p.Gln497= | |
| NR_026699.1:n.1589G>A | ||
| NR_026700.1:n.696-1G>A | ||
| NR_026701.1:n.1587G>A | ||
| NR_026702.1:n.626-1G>A | ||
| XM_005264878.2:c.*610G>A | XP_005264935.1:n.*610G>A | |
| XR_245095.2:n.2743-1G>A | ||
| XM_017005730.1:c.1110G>A | XP_016861219.1:p.Gln370= | |
| XM_024453351.1:c.1491G>A | XP_024309119.1:p.Gln497= | |
| XM_024453352.1:c.*610G>A | XP_024309120.1:n.*610G>A | |
| XR_001740022.2:n.3393G>A | ||
| XR_001740023.2:n.2918-1G>A | ||
| XR_245095.4:n.2744-1G>A | ||
| NM_145262.4:c.1491G>A MANE Select | NP_660305.2:p.Gln497= | |
| NR_026699.2:n.1581G>A | ||
| NR_026700.2:n.688-1G>A | ||
| NR_026701.2:n.1579G>A | ||
| NR_026702.2:n.618-1G>A | ||
| NM_001144951.2:c.*610G>A | NP_001138423.1:n.*610G>A |