Linked Data
dbSNP Id:
rs764539112
ExAC:
3:52327041 A / G
gnomAD v2:
3-52327041-A-G
gnomAD v3:
3-52293025-A-G
gnomAD v4:
3-52293025-A-G
COSMIC:
COSM5713630
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293025A>G , CM000665.2:g.52293025A>G | GRCh38 |
| NC_000003.11:g.52327041A>G , CM000665.1:g.52327041A>G | GRCh37 |
| NC_000003.10:g.52302081A>G | NCBI36 |
| NG_023246.1:g.10206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1471A>G MANE Select | ENSP00000389175.2:p.Thr491Ala | |
| ENST00000436784.6:c.1471A>G | ENSP00000389175.2:p.Thr491Ala | |
| ENST00000461183.5:c.764-21A>G | ENSP00000417264.1:n.764-21A>G | |
| ENST00000471180.5:c.635-21A>G | ENSP00000417526.1:n.635-21A>G | |
| ENST00000473032.5:c.530-21A>G | ENSP00000418951.1:n.530-21A>G | |
| ENST00000486393.5:c.*834A>G | ENSP00000419868.1:n.*834A>G | |
| ENST00000489173.1:n.1765A>G | ||
| NM_145262.3:c.1471A>G | NP_660305.2:p.Thr491Ala | |
| NR_026699.1:n.1569A>G | ||
| NR_026700.1:n.696-21A>G | ||
| NR_026701.1:n.1567A>G | ||
| NR_026702.1:n.626-21A>G | ||
| XM_005264878.2:c.*590A>G | XP_005264935.1:n.*590A>G | |
| XR_245095.2:n.2743-21A>G | ||
| XM_017005730.1:c.1090A>G | XP_016861219.1:p.Thr364Ala | |
| XM_024453351.1:c.1471A>G | XP_024309119.1:p.Thr491Ala | |
| XM_024453352.1:c.*590A>G | XP_024309120.1:n.*590A>G | |
| XR_001740022.2:n.3373A>G | ||
| XR_001740023.2:n.2918-21A>G | ||
| XR_245095.4:n.2744-21A>G | ||
| NM_145262.4:c.1471A>G MANE Select | NP_660305.2:p.Thr491Ala | |
| NR_026699.2:n.1561A>G | ||
| NR_026700.2:n.688-21A>G | ||
| NR_026701.2:n.1559A>G | ||
| NR_026702.2:n.618-21A>G | ||
| NM_001144951.2:c.*590A>G | NP_001138423.1:n.*590A>G |