Linked Data
dbSNP Id:
rs778822139
ExAC:
3:52327000 G / A
gnomAD v2:
3-52327000-G-A
gnomAD v4:
3-52292984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292984G>A , CM000665.2:g.52292984G>A | GRCh38 |
| NC_000003.11:g.52327000G>A , CM000665.1:g.52327000G>A | GRCh37 |
| NC_000003.10:g.52302040G>A | NCBI36 |
| NG_023246.1:g.10165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1430G>A MANE Select | ENSP00000389175.2:p.Gly477Asp | |
| ENST00000305690.12:c.*549G>A | ENSP00000301965.9:n.*549G>A | |
| ENST00000436784.6:c.1430G>A | ENSP00000389175.2:p.Gly477Asp | |
| ENST00000461183.5:c.764-62G>A | ENSP00000417264.1:n.764-62G>A | |
| ENST00000471180.5:c.635-62G>A | ENSP00000417526.1:n.635-62G>A | |
| ENST00000473032.5:c.530-62G>A | ENSP00000418951.1:n.530-62G>A | |
| ENST00000477382.1:c.*549G>A | ENSP00000419008.1:n.*549G>A | |
| ENST00000486393.5:c.*793G>A | ENSP00000419868.1:n.*793G>A | |
| ENST00000489173.1:n.1724G>A | ||
| NM_001144951.1:c.*549G>A | NP_001138423.1:n.*549G>A | |
| NM_145262.3:c.1430G>A | NP_660305.2:p.Gly477Asp | |
| NR_026699.1:n.1528G>A | ||
| NR_026700.1:n.696-62G>A | ||
| NR_026701.1:n.1526G>A | ||
| NR_026702.1:n.626-62G>A | ||
| XM_005264878.2:c.*549G>A | XP_005264935.1:n.*549G>A | |
| XR_245095.2:n.2743-62G>A | ||
| XM_017005730.1:c.1049G>A | XP_016861219.1:p.Gly350Asp | |
| XM_024453351.1:c.1430G>A | XP_024309119.1:p.Gly477Asp | |
| XM_024453352.1:c.*549G>A | XP_024309120.1:n.*549G>A | |
| XR_001740022.2:n.3332G>A | ||
| XR_001740023.2:n.2918-62G>A | ||
| XR_245095.4:n.2744-62G>A | ||
| NM_145262.4:c.1430G>A MANE Select | NP_660305.2:p.Gly477Asp | |
| NR_026699.2:n.1520G>A | ||
| NR_026700.2:n.688-62G>A | ||
| NR_026701.2:n.1518G>A | ||
| NR_026702.2:n.618-62G>A | ||
| NM_001144951.2:c.*549G>A | NP_001138423.1:n.*549G>A |