Linked Data
dbSNP Id:
rs1437742529
gnomAD v2:
3-52326878-G-A
gnomAD v3:
3-52292862-G-A
gnomAD v4:
3-52292862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52292862G>A , CM000665.2:g.52292862G>A | GRCh38 |
| NC_000003.11:g.52326878G>A , CM000665.1:g.52326878G>A | GRCh37 |
| NC_000003.10:g.52301918G>A | NCBI36 |
| NG_023246.1:g.10043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1308G>A MANE Select | ENSP00000389175.2:p.Arg436= | |
| ENST00000305690.12:c.*427G>A | ENSP00000301965.9:n.*427G>A | |
| ENST00000436784.6:c.1308G>A | ENSP00000389175.2:p.Arg436= | |
| ENST00000461183.5:c.764-184G>A | ENSP00000417264.1:n.764-184G>A | |
| ENST00000471180.5:c.635-184G>A | ENSP00000417526.1:n.635-184G>A | |
| ENST00000473032.5:c.530-184G>A | ENSP00000418951.1:n.530-184G>A | |
| ENST00000477382.1:c.*427G>A | ENSP00000419008.1:n.*427G>A | |
| ENST00000486393.5:c.*671G>A | ENSP00000419868.1:n.*671G>A | |
| ENST00000489173.1:n.1602G>A | ||
| NM_001144951.1:c.*427G>A | NP_001138423.1:n.*427G>A | |
| NM_145262.3:c.1308G>A | NP_660305.2:p.Arg436= | |
| NR_026699.1:n.1406G>A | ||
| NR_026700.1:n.696-184G>A | ||
| NR_026701.1:n.1404G>A | ||
| NR_026702.1:n.626-184G>A | ||
| XM_005264878.2:c.*427G>A | XP_005264935.1:n.*427G>A | |
| XR_245095.2:n.2743-184G>A | ||
| XM_017005730.1:c.927G>A | XP_016861219.1:p.Arg309= | |
| XM_024453351.1:c.1308G>A | XP_024309119.1:p.Arg436= | |
| XM_024453352.1:c.*427G>A | XP_024309120.1:n.*427G>A | |
| XR_001740022.2:n.3210G>A | ||
| XR_001740023.2:n.2918-184G>A | ||
| XR_245095.4:n.2744-184G>A | ||
| NM_145262.4:c.1308G>A MANE Select | NP_660305.2:p.Arg436= | |
| NR_026699.2:n.1398G>A | ||
| NR_026700.2:n.688-184G>A | ||
| NR_026701.2:n.1396G>A | ||
| NR_026702.2:n.618-184G>A | ||
| NM_001144951.2:c.*427G>A | NP_001138423.1:n.*427G>A |