Linked Data
ClinVar Variation Id:
2577403
ClinVar RCV Id:
RCV003324480
gnomAD v4:
3-53732963-G-A
MutSpliceDB:
CA353241728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53732963G>A , CM000665.2:g.53732963G>A | GRCh38 |
| NC_000003.11:g.53766990G>A , CM000665.1:g.53766990G>A | GRCh37 |
| NC_000003.10:g.53742030G>A | NCBI36 |
| NG_032999.1:g.242915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.2681+1G>A | ENSP00000418014.2:n.2681+1G>A | |
| ENST00000636627.2:c.2681+1G>A | ENSP00000490889.2:n.2681+1G>A | |
| ENST00000288139.11:c.2681+1G>A MANE Plus Clinical | ENSP00000288139.3:n.2681+1G>A | |
| ENST00000350061.11:c.2621+1G>A MANE Select | ENSP00000288133.5:n.2621+1G>A | |
| ENST00000422281.7:c.2621+1G>A | ENSP00000409174.2:n.2621+1G>A | |
| ENST00000636138.1:n.190+881G>A | ||
| ENST00000636570.1:c.2621+1G>A | ENSP00000490183.1:n.2621+1G>A | |
| ENST00000636627.1:c.1921+1G>A | ||
| ENST00000636938.1:c.2621+1G>A | ENSP00000490039.1:n.2621+1G>A | |
| ENST00000637078.1:n.333+1G>A | ||
| ENST00000637424.1:c.2693+1G>A | ENSP00000489769.1:n.2693+1G>A | |
| ENST00000637714.1:c.354+1G>A | ||
| ENST00000640483.1:c.2654+1G>A | ENSP00000491921.1:n.2654+1G>A | |
| ENST00000288139.8:c.2681+1G>A | ENSP00000288139.3:n.2681+1G>A | |
| ENST00000350061.9:c.2621+1G>A | ENSP00000288133.5:n.2621+1G>A | |
| ENST00000422281.6:c.2621+1G>A | ENSP00000409174.2:n.2621+1G>A | |
| ENST00000481478.1:c.1700+1G>A | ENSP00000418014.1:n.1700+1G>A | |
| NM_000720.3:c.2681+1G>A | NP_000711.1:n.2681+1G>A | |
| NM_001128839.2:c.2621+1G>A | NP_001122311.1:n.2621+1G>A | |
| NM_001128840.2:c.2621+1G>A | NP_001122312.1:n.2621+1G>A | |
| XM_005265448.2:c.2621+1G>A | XP_005265505.1:n.2621+1G>A | |
| XM_011534094.1:c.2792+1G>A | XP_011532396.1:n.2792+1G>A | |
| XM_011534095.1:c.2681+1G>A | XP_011532397.1:n.2681+1G>A | |
| XM_011534096.1:c.2732+1G>A | XP_011532398.1:n.2732+1G>A | |
| XM_011534097.1:c.2255+1G>A | XP_011532399.1:n.2255+1G>A | |
| XM_011534098.1:c.2255+1G>A | XP_011532400.1:n.2255+1G>A | |
| XM_011534099.1:c.1880+1G>A | XP_011532401.1:n.1880+1G>A | |
| XM_011534100.1:c.2732+1G>A | XP_011532402.1:n.2732+1G>A | |
| XM_005265448.3:c.2621+1G>A | XP_005265505.1:n.2621+1G>A | |
| XM_011534094.2:c.2792+1G>A | XP_011532396.1:n.2792+1G>A | |
| XM_011534096.2:c.2732+1G>A | XP_011532398.1:n.2732+1G>A | |
| XM_011534097.2:c.2255+1G>A | XP_011532399.1:n.2255+1G>A | |
| XM_011534099.2:c.1880+1G>A | XP_011532401.1:n.1880+1G>A | |
| XM_011534100.2:c.2732+1G>A | XP_011532402.1:n.2732+1G>A | |
| XM_017007137.1:c.2792+1G>A | XP_016862626.1:n.2792+1G>A | |
| XM_017007138.1:c.2789+1G>A | XP_016862627.1:n.2789+1G>A | |
| XM_017007139.1:c.2792+1G>A | XP_016862628.1:n.2792+1G>A | |
| XM_017007140.1:c.2732+1G>A | XP_016862629.1:n.2732+1G>A | |
| XM_017007141.1:c.2732+1G>A | XP_016862630.1:n.2732+1G>A | |
| XM_017007142.1:c.2792+1G>A | XP_016862631.1:n.2792+1G>A | |
| XM_017007143.1:c.2792+1G>A | XP_016862632.1:n.2792+1G>A | |
| XM_017007144.1:c.2792+1G>A | XP_016862633.1:n.2792+1G>A | |
| XM_017007145.1:c.2792+1G>A | XP_016862634.1:n.2792+1G>A | |
| NM_001128840.3:c.2621+1G>A MANE Select | NP_001122312.1:n.2621+1G>A | |
| NM_000720.4:c.2681+1G>A MANE Plus Clinical | NP_000711.1:n.2681+1G>A | |
| NM_001128839.3:c.2621+1G>A | NP_001122311.1:n.2621+1G>A |