Linked Data
ClinVar Variation Id:
2894359
ClinVar RCV Id:
RCV003725779
dbSNP Id:
rs750864029
gnomAD v3:
3-53801331-C-T
gnomAD v4:
3-53801331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801331C>T , CM000665.2:g.53801331C>T | GRCh38 |
| NC_000003.11:g.53835358C>T , CM000665.1:g.53835358C>T | GRCh37 |
| NC_000003.10:g.53810398C>T | NCBI36 |
| NG_032999.1:g.311283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5374C>T | ENSP00000418014.2:p.Pro1792Ser | |
| ENST00000636633.2:n.2313C>T | ||
| ENST00000636999.2:n.749C>T | ||
| ENST00000288139.11:c.5374C>T MANE Plus Clinical | ENSP00000288139.3:p.Pro1792Ser | |
| ENST00000350061.11:c.5314C>T MANE Select | ENSP00000288133.5:p.Pro1772Ser | |
| ENST00000422281.7:c.5269C>T | ENSP00000409174.2:p.Pro1757Ser | |
| ENST00000636448.1:c.1435C>T | ||
| ENST00000636570.1:c.5269C>T | ENSP00000490183.1:p.Pro1757Ser | |
| ENST00000636629.1:n.670C>T | ||
| ENST00000636633.1:n.2313C>T | ||
| ENST00000636999.1:n.741C>T | ||
| ENST00000637424.1:c.5341C>T | ENSP00000489769.1:p.Pro1781Ser | |
| ENST00000637844.1:n.68C>T | ||
| ENST00000288139.8:c.5374C>T | ENSP00000288139.3:p.Pro1792Ser | |
| ENST00000350061.9:c.5314C>T | ENSP00000288133.5:p.Pro1772Ser | |
| ENST00000422281.6:c.5269C>T | ENSP00000409174.2:p.Pro1757Ser | |
| ENST00000481478.1:c.4393C>T | ENSP00000418014.1:p.Pro1465Ser | |
| NM_000720.3:c.5374C>T | NP_000711.1:p.Pro1792Ser | |
| NM_001128839.2:c.5269C>T | NP_001122311.1:p.Pro1757Ser | |
| NM_001128840.2:c.5314C>T | NP_001122312.1:p.Pro1772Ser | |
| XM_005265448.2:c.5269C>T | XP_005265505.1:p.Pro1757Ser | |
| XM_011534094.1:c.5569C>T | XP_011532396.1:p.Pro1857Ser | |
| XM_011534095.1:c.5458C>T | XP_011532397.1:p.Pro1820Ser | |
| XM_011534096.1:c.5380C>T | XP_011532398.1:p.Pro1794Ser | |
| XM_011534097.1:c.5032C>T | XP_011532399.1:p.Pro1678Ser | |
| XM_011534098.1:c.5032C>T | XP_011532400.1:p.Pro1678Ser | |
| XM_011534099.1:c.4657C>T | XP_011532401.1:p.Pro1553Ser | |
| XM_011534100.1:c.5464C>T | XP_011532402.1:p.Pro1822Ser | |
| XM_005265448.3:c.5269C>T | XP_005265505.1:p.Pro1757Ser | |
| XM_011534094.2:c.5569C>T | XP_011532396.1:p.Pro1857Ser | |
| XM_011534096.2:c.5380C>T | XP_011532398.1:p.Pro1794Ser | |
| XM_011534097.2:c.5032C>T | XP_011532399.1:p.Pro1678Ser | |
| XM_011534099.2:c.4657C>T | XP_011532401.1:p.Pro1553Ser | |
| XM_011534100.2:c.5464C>T | XP_011532402.1:p.Pro1822Ser | |
| XM_017007137.1:c.5569C>T | XP_016862626.1:p.Pro1857Ser | |
| XM_017007138.1:c.5566C>T | XP_016862627.1:p.Pro1856Ser | |
| XM_017007139.1:c.5569C>T | XP_016862628.1:p.Pro1857Ser | |
| XM_017007140.1:c.5509C>T | XP_016862629.1:p.Pro1837Ser | |
| XM_017007141.1:c.5509C>T | XP_016862630.1:p.Pro1837Ser | |
| XM_017007142.1:c.5485C>T | XP_016862631.1:p.Pro1829Ser | |
| XM_017007143.1:c.5485C>T | XP_016862632.1:p.Pro1829Ser | |
| XM_017007144.1:c.5485C>T | XP_016862633.1:p.Pro1829Ser | |
| XM_017007145.1:c.5440C>T | XP_016862634.1:p.Pro1814Ser | |
| NM_001128840.3:c.5314C>T MANE Select | NP_001122312.1:p.Pro1772Ser | |
| NM_000720.4:c.5374C>T MANE Plus Clinical | NP_000711.1:p.Pro1792Ser | |
| NM_001128839.3:c.5269C>T | NP_001122311.1:p.Pro1757Ser |