Linked Data
ClinVar Variation Id:
504809
dbSNP Id:
rs199874790
ExAC:
3:53835340 G / C
gnomAD v2:
3-53835340-G-C
gnomAD v3:
3-53801313-G-C
gnomAD v4:
3-53801313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801313G>C , CM000665.2:g.53801313G>C | GRCh38 |
| NC_000003.11:g.53835340G>C , CM000665.1:g.53835340G>C | GRCh37 |
| NC_000003.10:g.53810380G>C | NCBI36 |
| NG_032999.1:g.311265G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5356G>C | ENSP00000418014.2:p.Ala1786Pro | |
| ENST00000636633.2:n.2295G>C | ||
| ENST00000636999.2:n.731G>C | ||
| ENST00000288139.11:c.5356G>C MANE Plus Clinical | ENSP00000288139.3:p.Ala1786Pro | |
| ENST00000350061.11:c.5296G>C MANE Select | ENSP00000288133.5:p.Ala1766Pro | |
| ENST00000422281.7:c.5251G>C | ENSP00000409174.2:p.Ala1751Pro | |
| ENST00000636448.1:c.1417G>C | ||
| ENST00000636570.1:c.5251G>C | ENSP00000490183.1:p.Ala1751Pro | |
| ENST00000636629.1:n.652G>C | ||
| ENST00000636633.1:n.2295G>C | ||
| ENST00000636999.1:n.723G>C | ||
| ENST00000637424.1:c.5323G>C | ENSP00000489769.1:p.Ala1775Pro | |
| ENST00000637844.1:n.50G>C | ||
| ENST00000288139.8:c.5356G>C | ENSP00000288139.3:p.Ala1786Pro | |
| ENST00000350061.9:c.5296G>C | ENSP00000288133.5:p.Ala1766Pro | |
| ENST00000422281.6:c.5251G>C | ENSP00000409174.2:p.Ala1751Pro | |
| ENST00000481478.1:c.4375G>C | ENSP00000418014.1:p.Ala1459Pro | |
| NM_000720.3:c.5356G>C | NP_000711.1:p.Ala1786Pro | |
| NM_001128839.2:c.5251G>C | NP_001122311.1:p.Ala1751Pro | |
| NM_001128840.2:c.5296G>C | NP_001122312.1:p.Ala1766Pro | |
| XM_005265448.2:c.5251G>C | XP_005265505.1:p.Ala1751Pro | |
| XM_011534094.1:c.5551G>C | XP_011532396.1:p.Ala1851Pro | |
| XM_011534095.1:c.5440G>C | XP_011532397.1:p.Ala1814Pro | |
| XM_011534096.1:c.5362G>C | XP_011532398.1:p.Ala1788Pro | |
| XM_011534097.1:c.5014G>C | XP_011532399.1:p.Ala1672Pro | |
| XM_011534098.1:c.5014G>C | XP_011532400.1:p.Ala1672Pro | |
| XM_011534099.1:c.4639G>C | XP_011532401.1:p.Ala1547Pro | |
| XM_011534100.1:c.5446G>C | XP_011532402.1:p.Ala1816Pro | |
| XM_005265448.3:c.5251G>C | XP_005265505.1:p.Ala1751Pro | |
| XM_011534094.2:c.5551G>C | XP_011532396.1:p.Ala1851Pro | |
| XM_011534096.2:c.5362G>C | XP_011532398.1:p.Ala1788Pro | |
| XM_011534097.2:c.5014G>C | XP_011532399.1:p.Ala1672Pro | |
| XM_011534099.2:c.4639G>C | XP_011532401.1:p.Ala1547Pro | |
| XM_011534100.2:c.5446G>C | XP_011532402.1:p.Ala1816Pro | |
| XM_017007137.1:c.5551G>C | XP_016862626.1:p.Ala1851Pro | |
| XM_017007138.1:c.5548G>C | XP_016862627.1:p.Ala1850Pro | |
| XM_017007139.1:c.5551G>C | XP_016862628.1:p.Ala1851Pro | |
| XM_017007140.1:c.5491G>C | XP_016862629.1:p.Ala1831Pro | |
| XM_017007141.1:c.5491G>C | XP_016862630.1:p.Ala1831Pro | |
| XM_017007142.1:c.5467G>C | XP_016862631.1:p.Ala1823Pro | |
| XM_017007143.1:c.5467G>C | XP_016862632.1:p.Ala1823Pro | |
| XM_017007144.1:c.5467G>C | XP_016862633.1:p.Ala1823Pro | |
| XM_017007145.1:c.5422G>C | XP_016862634.1:p.Ala1808Pro | |
| NM_001128840.3:c.5296G>C MANE Select | NP_001122312.1:p.Ala1766Pro | |
| NM_000720.4:c.5356G>C MANE Plus Clinical | NP_000711.1:p.Ala1786Pro | |
| NM_001128839.3:c.5251G>C | NP_001122311.1:p.Ala1751Pro |