Linked Data
dbSNP Id:
rs3774426
gnomAD v2:
3-53559002-C-T
gnomAD v3:
3-53524975-C-T
gnomAD v4:
3-53524975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53524975C>T , CM000665.2:g.53524975C>T | GRCh38 |
| NC_000003.11:g.53559002C>T , CM000665.1:g.53559002C>T | GRCh37 |
| NC_000003.10:g.53534042C>T | NCBI36 |
| NG_032999.1:g.34927C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481478.2:c.483+23255C>T | ENSP00000418014.2:n.483+23255C>T | |
| ENST00000636627.2:c.483+23255C>T | ENSP00000490889.2:n.483+23255C>T | |
| ENST00000288139.11:c.483+23255C>T MANE Plus Clinical | ENSP00000288139.3:n.483+23255C>T | |
| ENST00000350061.11:c.483+23255C>T MANE Select | ENSP00000288133.5:n.483+23255C>T | |
| ENST00000422281.7:c.483+23255C>T | ENSP00000409174.2:n.483+23255C>T | |
| ENST00000636480.1:n.491+23255C>T | ||
| ENST00000636570.1:c.483+23255C>T | ENSP00000490183.1:n.483+23255C>T | |
| ENST00000636938.1:c.483+23255C>T | ENSP00000490039.1:n.483+23255C>T | |
| ENST00000637424.1:c.555+23255C>T | ENSP00000489769.1:n.555+23255C>T | |
| ENST00000640483.1:c.456+23255C>T | ENSP00000491921.1:n.456+23255C>T | |
| ENST00000288139.8:c.483+23255C>T | ENSP00000288139.3:n.483+23255C>T | |
| ENST00000350061.9:c.483+23255C>T | ENSP00000288133.5:n.483+23255C>T | |
| ENST00000422281.6:c.483+23255C>T | ENSP00000409174.2:n.483+23255C>T | |
| NM_000720.3:c.483+23255C>T | NP_000711.1:n.483+23255C>T | |
| NM_001128839.2:c.483+23255C>T | NP_001122311.1:n.483+23255C>T | |
| NM_001128840.2:c.483+23255C>T | NP_001122312.1:n.483+23255C>T | |
| XM_005265448.2:c.483+23255C>T | XP_005265505.1:n.483+23255C>T | |
| XM_011534094.1:c.594+23255C>T | XP_011532396.1:n.594+23255C>T | |
| XM_011534095.1:c.483+23255C>T | XP_011532397.1:n.483+23255C>T | |
| XM_011534096.1:c.594+23255C>T | XP_011532398.1:n.594+23255C>T | |
| XM_011534097.1:c.57+23471C>T | XP_011532399.1:n.57+23471C>T | |
| XM_011534098.1:c.57+23471C>T | XP_011532400.1:n.57+23471C>T | |
| XM_011534100.1:c.594+23255C>T | XP_011532402.1:n.594+23255C>T | |
| XM_005265448.3:c.483+23255C>T | XP_005265505.1:n.483+23255C>T | |
| XM_011534094.2:c.594+23255C>T | XP_011532396.1:n.594+23255C>T | |
| XM_011534096.2:c.594+23255C>T | XP_011532398.1:n.594+23255C>T | |
| XM_011534097.2:c.57+23471C>T | XP_011532399.1:n.57+23471C>T | |
| XM_011534100.2:c.594+23255C>T | XP_011532402.1:n.594+23255C>T | |
| XM_017007137.1:c.594+23255C>T | XP_016862626.1:n.594+23255C>T | |
| XM_017007138.1:c.594+23255C>T | XP_016862627.1:n.594+23255C>T | |
| XM_017007139.1:c.594+23255C>T | XP_016862628.1:n.594+23255C>T | |
| XM_017007140.1:c.594+23255C>T | XP_016862629.1:n.594+23255C>T | |
| XM_017007141.1:c.594+23255C>T | XP_016862630.1:n.594+23255C>T | |
| XM_017007142.1:c.594+23255C>T | XP_016862631.1:n.594+23255C>T | |
| XM_017007143.1:c.594+23255C>T | XP_016862632.1:n.594+23255C>T | |
| XM_017007144.1:c.594+23255C>T | XP_016862633.1:n.594+23255C>T | |
| XM_017007145.1:c.594+23255C>T | XP_016862634.1:n.594+23255C>T | |
| NM_001128840.3:c.483+23255C>T MANE Select | NP_001122312.1:n.483+23255C>T | |
| NM_000720.4:c.483+23255C>T MANE Plus Clinical | NP_000711.1:n.483+23255C>T | |
| NM_001128839.3:c.483+23255C>T | NP_001122311.1:n.483+23255C>T |