Linked Data
dbSNP Id:
rs778624214
ExAC:
3:52327079 G / A
gnomAD v2:
3-52327079-G-A
gnomAD v4:
3-52293063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293063G>A , CM000665.2:g.52293063G>A | GRCh38 |
| NC_000003.11:g.52327079G>A , CM000665.1:g.52327079G>A | GRCh37 |
| NC_000003.10:g.52302119G>A | NCBI36 |
| NG_023246.1:g.10244G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1509G>A MANE Select | ENSP00000389175.2:p.Leu503= | |
| ENST00000436784.6:c.1509G>A | ENSP00000389175.2:p.Leu503= | |
| ENST00000461183.5:c.781G>A | ENSP00000417264.1:p.Ala261Thr | |
| ENST00000471180.5:c.652G>A | ENSP00000417526.1:p.Ala218Thr | |
| ENST00000473032.5:c.547G>A | ENSP00000418951.1:p.Ala183Thr | |
| ENST00000486393.5:c.*872G>A | ENSP00000419868.1:n.*872G>A | |
| ENST00000489173.1:n.1803G>A | ||
| NM_145262.3:c.1509G>A | NP_660305.2:p.Leu503= | |
| NR_026699.1:n.1607G>A | ||
| NR_026700.1:n.713G>A | ||
| NR_026701.1:n.1605G>A | ||
| NR_026702.1:n.643G>A | ||
| XM_005264878.2:c.*628G>A | XP_005264935.1:n.*628G>A | |
| XR_245095.2:n.2760G>A | ||
| XM_017005730.1:c.1128G>A | XP_016861219.1:p.Leu376= | |
| XM_024453351.1:c.1509G>A | XP_024309119.1:p.Leu503= | |
| XM_024453352.1:c.*628G>A | XP_024309120.1:n.*628G>A | |
| XR_001740022.2:n.3411G>A | ||
| XR_001740023.2:n.2935G>A | ||
| XR_245095.4:n.2761G>A | ||
| NM_145262.4:c.1509G>A MANE Select | NP_660305.2:p.Leu503= | |
| NR_026699.2:n.1599G>A | ||
| NR_026700.2:n.705G>A | ||
| NR_026701.2:n.1597G>A | ||
| NR_026702.2:n.635G>A | ||
| NM_001144951.2:c.*628G>A | NP_001138423.1:n.*628G>A |