Linked Data
dbSNP Id:
rs1365305531
gnomAD v2:
3-53835260-A-G
gnomAD v3:
3-53801233-A-G
gnomAD v4:
3-53801233-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801233A>G , CM000665.2:g.53801233A>G | GRCh38 |
| NC_000003.11:g.53835260A>G , CM000665.1:g.53835260A>G | GRCh37 |
| NC_000003.10:g.53810300A>G | NCBI36 |
| NG_032999.1:g.311185A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5276A>G | ENSP00000418014.2:p.Asn1759Ser | |
| ENST00000636633.2:n.2215A>G | ||
| ENST00000636999.2:n.651A>G | ||
| ENST00000288139.11:c.5276A>G MANE Plus Clinical | ENSP00000288139.3:p.Asn1759Ser | |
| ENST00000350061.11:c.5216A>G MANE Select | ENSP00000288133.5:p.Asn1739Ser | |
| ENST00000422281.7:c.5171A>G | ENSP00000409174.2:p.Asn1724Ser | |
| ENST00000636448.1:c.1337A>G | ||
| ENST00000636570.1:c.5171A>G | ENSP00000490183.1:p.Asn1724Ser | |
| ENST00000636629.1:n.572A>G | ||
| ENST00000636633.1:n.2215A>G | ||
| ENST00000636999.1:n.643A>G | ||
| ENST00000637424.1:c.5243A>G | ENSP00000489769.1:p.Asn1748Ser | |
| ENST00000288139.8:c.5276A>G | ENSP00000288139.3:p.Asn1759Ser | |
| ENST00000350061.9:c.5216A>G | ENSP00000288133.5:p.Asn1739Ser | |
| ENST00000422281.6:c.5171A>G | ENSP00000409174.2:p.Asn1724Ser | |
| ENST00000481478.1:c.4295A>G | ENSP00000418014.1:p.Asn1432Ser | |
| NM_000720.3:c.5276A>G | NP_000711.1:p.Asn1759Ser | |
| NM_001128839.2:c.5171A>G | NP_001122311.1:p.Asn1724Ser | |
| NM_001128840.2:c.5216A>G | NP_001122312.1:p.Asn1739Ser | |
| XM_005265448.2:c.5171A>G | XP_005265505.1:p.Asn1724Ser | |
| XM_011534094.1:c.5471A>G | XP_011532396.1:p.Asn1824Ser | |
| XM_011534095.1:c.5360A>G | XP_011532397.1:p.Asn1787Ser | |
| XM_011534096.1:c.5282A>G | XP_011532398.1:p.Asn1761Ser | |
| XM_011534097.1:c.4934A>G | XP_011532399.1:p.Asn1645Ser | |
| XM_011534098.1:c.4934A>G | XP_011532400.1:p.Asn1645Ser | |
| XM_011534099.1:c.4559A>G | XP_011532401.1:p.Asn1520Ser | |
| XM_011534100.1:c.5366A>G | XP_011532402.1:p.Asn1789Ser | |
| XM_005265448.3:c.5171A>G | XP_005265505.1:p.Asn1724Ser | |
| XM_011534094.2:c.5471A>G | XP_011532396.1:p.Asn1824Ser | |
| XM_011534096.2:c.5282A>G | XP_011532398.1:p.Asn1761Ser | |
| XM_011534097.2:c.4934A>G | XP_011532399.1:p.Asn1645Ser | |
| XM_011534099.2:c.4559A>G | XP_011532401.1:p.Asn1520Ser | |
| XM_011534100.2:c.5366A>G | XP_011532402.1:p.Asn1789Ser | |
| XM_017007137.1:c.5471A>G | XP_016862626.1:p.Asn1824Ser | |
| XM_017007138.1:c.5468A>G | XP_016862627.1:p.Asn1823Ser | |
| XM_017007139.1:c.5471A>G | XP_016862628.1:p.Asn1824Ser | |
| XM_017007140.1:c.5411A>G | XP_016862629.1:p.Asn1804Ser | |
| XM_017007141.1:c.5411A>G | XP_016862630.1:p.Asn1804Ser | |
| XM_017007142.1:c.5387A>G | XP_016862631.1:p.Asn1796Ser | |
| XM_017007143.1:c.5387A>G | XP_016862632.1:p.Asn1796Ser | |
| XM_017007144.1:c.5387A>G | XP_016862633.1:p.Asn1796Ser | |
| XM_017007145.1:c.5342A>G | XP_016862634.1:p.Asn1781Ser | |
| NM_001128840.3:c.5216A>G MANE Select | NP_001122312.1:p.Asn1739Ser | |
| NM_000720.4:c.5276A>G MANE Plus Clinical | NP_000711.1:p.Asn1759Ser | |
| NM_001128839.3:c.5171A>G | NP_001122311.1:p.Asn1724Ser |