Linked Data
dbSNP Id:
rs80017945
gnomAD v2:
3-52326984-C-G
gnomAD v3:
3-52292968-C-G
gnomAD v4:
3-52292968-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292968C>G , CM000665.2:g.52292968C>G | GRCh38 |
| NC_000003.11:g.52326984C>G , CM000665.1:g.52326984C>G | GRCh37 |
| NC_000003.10:g.52302024C>G | NCBI36 |
| NG_023246.1:g.10149C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1414C>G MANE Select | ENSP00000389175.2:p.Gln472Glu | |
| ENST00000305690.12:c.*533C>G | ENSP00000301965.9:n.*533C>G | |
| ENST00000436784.6:c.1414C>G | ENSP00000389175.2:p.Gln472Glu | |
| ENST00000461183.5:c.764-78C>G | ENSP00000417264.1:n.764-78C>G | |
| ENST00000471180.5:c.635-78C>G | ENSP00000417526.1:n.635-78C>G | |
| ENST00000473032.5:c.530-78C>G | ENSP00000418951.1:n.530-78C>G | |
| ENST00000477382.1:c.*533C>G | ENSP00000419008.1:n.*533C>G | |
| ENST00000486393.5:c.*777C>G | ENSP00000419868.1:n.*777C>G | |
| ENST00000489173.1:n.1708C>G | ||
| NM_001144951.1:c.*533C>G | NP_001138423.1:n.*533C>G | |
| NM_145262.3:c.1414C>G | NP_660305.2:p.Gln472Glu | |
| NR_026699.1:n.1512C>G | ||
| NR_026700.1:n.696-78C>G | ||
| NR_026701.1:n.1510C>G | ||
| NR_026702.1:n.626-78C>G | ||
| XM_005264878.2:c.*533C>G | XP_005264935.1:n.*533C>G | |
| XR_245095.2:n.2743-78C>G | ||
| XM_017005730.1:c.1033C>G | XP_016861219.1:p.Gln345Glu | |
| XM_024453351.1:c.1414C>G | XP_024309119.1:p.Gln472Glu | |
| XM_024453352.1:c.*533C>G | XP_024309120.1:n.*533C>G | |
| XR_001740022.2:n.3316C>G | ||
| XR_001740023.2:n.2918-78C>G | ||
| XR_245095.4:n.2744-78C>G | ||
| NM_145262.4:c.1414C>G MANE Select | NP_660305.2:p.Gln472Glu | |
| NR_026699.2:n.1504C>G | ||
| NR_026700.2:n.688-78C>G | ||
| NR_026701.2:n.1502C>G | ||
| NR_026702.2:n.618-78C>G | ||
| NM_001144951.2:c.*533C>G | NP_001138423.1:n.*533C>G |