Linked Data
ClinVar Variation Id:
2966625
ClinVar RCV Id:
RCV003828759
dbSNP Id:
rs371561651
ExAC:
3:53835461 G / A
gnomAD v2:
3-53835461-G-A
gnomAD v3:
3-53801434-G-A
gnomAD v4:
3-53801434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801434G>A , CM000665.2:g.53801434G>A | GRCh38 |
| NC_000003.11:g.53835461G>A , CM000665.1:g.53835461G>A | GRCh37 |
| NC_000003.10:g.53810501G>A | NCBI36 |
| NG_032999.1:g.311386G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5468+9G>A | ENSP00000418014.2:n.5468+9G>A | |
| ENST00000636633.2:n.2407+9G>A | ||
| ENST00000636999.2:n.843+9G>A | ||
| ENST00000288139.11:c.5468+9G>A MANE Plus Clinical | ENSP00000288139.3:n.5468+9G>A | |
| ENST00000350061.11:c.5408+9G>A MANE Select | ENSP00000288133.5:n.5408+9G>A | |
| ENST00000422281.7:c.5363+9G>A | ENSP00000409174.2:n.5363+9G>A | |
| ENST00000636448.1:c.1529+9G>A | ||
| ENST00000636570.1:c.5363+9G>A | ENSP00000490183.1:n.5363+9G>A | |
| ENST00000636629.1:n.764+9G>A | ||
| ENST00000636633.1:n.2407+9G>A | ||
| ENST00000636999.1:n.835+9G>A | ||
| ENST00000637424.1:c.5435+9G>A | ENSP00000489769.1:n.5435+9G>A | |
| ENST00000637844.1:n.162+9G>A | ||
| ENST00000288139.8:c.5468+9G>A | ENSP00000288139.3:n.5468+9G>A | |
| ENST00000350061.9:c.5408+9G>A | ENSP00000288133.5:n.5408+9G>A | |
| ENST00000422281.6:c.5363+9G>A | ENSP00000409174.2:n.5363+9G>A | |
| ENST00000481478.1:c.4487+9G>A | ENSP00000418014.1:n.4487+9G>A | |
| NM_000720.3:c.5468+9G>A | NP_000711.1:n.5468+9G>A | |
| NM_001128839.2:c.5363+9G>A | NP_001122311.1:n.5363+9G>A | |
| NM_001128840.2:c.5408+9G>A | NP_001122312.1:n.5408+9G>A | |
| XM_005265448.2:c.5363+9G>A | XP_005265505.1:n.5363+9G>A | |
| XM_011534094.1:c.5663+9G>A | XP_011532396.1:n.5663+9G>A | |
| XM_011534095.1:c.5552+9G>A | XP_011532397.1:n.5552+9G>A | |
| XM_011534096.1:c.5474+9G>A | XP_011532398.1:n.5474+9G>A | |
| XM_011534097.1:c.5126+9G>A | XP_011532399.1:n.5126+9G>A | |
| XM_011534098.1:c.5126+9G>A | XP_011532400.1:n.5126+9G>A | |
| XM_011534099.1:c.4751+9G>A | XP_011532401.1:n.4751+9G>A | |
| XM_011534100.1:c.5558+9G>A | XP_011532402.1:n.5558+9G>A | |
| XM_005265448.3:c.5363+9G>A | XP_005265505.1:n.5363+9G>A | |
| XM_011534094.2:c.5663+9G>A | XP_011532396.1:n.5663+9G>A | |
| XM_011534096.2:c.5474+9G>A | XP_011532398.1:n.5474+9G>A | |
| XM_011534097.2:c.5126+9G>A | XP_011532399.1:n.5126+9G>A | |
| XM_011534099.2:c.4751+9G>A | XP_011532401.1:n.4751+9G>A | |
| XM_011534100.2:c.5558+9G>A | XP_011532402.1:n.5558+9G>A | |
| XM_017007137.1:c.5663+9G>A | XP_016862626.1:n.5663+9G>A | |
| XM_017007138.1:c.5660+9G>A | XP_016862627.1:n.5660+9G>A | |
| XM_017007139.1:c.5663+9G>A | XP_016862628.1:n.5663+9G>A | |
| XM_017007140.1:c.5603+9G>A | XP_016862629.1:n.5603+9G>A | |
| XM_017007141.1:c.5603+9G>A | XP_016862630.1:n.5603+9G>A | |
| XM_017007142.1:c.5579+9G>A | XP_016862631.1:n.5579+9G>A | |
| XM_017007143.1:c.5579+9G>A | XP_016862632.1:n.5579+9G>A | |
| XM_017007144.1:c.5579+9G>A | XP_016862633.1:n.5579+9G>A | |
| XM_017007145.1:c.5534+9G>A | XP_016862634.1:n.5534+9G>A | |
| NM_001128840.3:c.5408+9G>A MANE Select | NP_001122312.1:n.5408+9G>A | |
| NM_000720.4:c.5468+9G>A MANE Plus Clinical | NP_000711.1:n.5468+9G>A | |
| NM_001128839.3:c.5363+9G>A | NP_001122311.1:n.5363+9G>A |