Linked Data
ClinVar Variation Id:
484878
dbSNP Id:
rs199847974
gnomAD v2:
19-11152000-G-A
gnomAD v3:
19-11041324-G-A
gnomAD v4:
19-11041324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11041324G>A , CM000681.2:g.11041324G>A | GRCh38 |
| NC_000019.9:g.11152000G>A , CM000681.1:g.11152000G>A | GRCh37 |
| NC_000019.8:g.11013000G>A | NCBI36 |
| NG_011556.2:g.85403G>A | |
| NG_011556.3:g.85393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.4284G>A | ENSP00000518564.1:p.Thr1428= | |
| ENST00000704344.1:c.4188G>A | ENSP00000515855.1:p.Thr1396= | |
| ENST00000646693.2:c.4284G>A MANE Plus Clinical | ENSP00000495368.1:p.Thr1428= | |
| ENST00000344626.10:c.4188G>A MANE Select | ENSP00000343896.4:p.Thr1396= | |
| ENST00000429416.8:c.4188G>A | ENSP00000395654.1:p.Thr1396= | |
| ENST00000444061.8:c.4089G>A | ENSP00000392837.2:p.Thr1363= | |
| ENST00000538456.4:c.355G>A | ||
| ENST00000586985.2:c.315G>A | ENSP00000467796.2:p.Thr105= | |
| ENST00000590574.6:c.4089G>A | ENSP00000466963.1:p.Thr1363= | |
| ENST00000592158.2:c.129G>A | ENSP00000467200.2:p.Thr43= | |
| ENST00000592604.6:n.2429G>A | ||
| ENST00000642350.1:c.2682G>A | ENSP00000495355.1:p.Thr894= | |
| ENST00000642508.1:c.1645G>A | ||
| ENST00000642628.1:c.4185G>A | ENSP00000496498.1:p.Thr1395= | |
| ENST00000642726.1:c.4185G>A | ENSP00000494353.1:p.Thr1395= | |
| ENST00000643208.1:c.2745G>A | ENSP00000496074.1:p.Thr915= | |
| ENST00000643296.1:c.4098G>A | ENSP00000496635.1:p.Thr1366= | |
| ENST00000643534.1:c.2473G>A | ||
| ENST00000643549.1:c.4194G>A | ENSP00000493975.1:p.Thr1398= | |
| ENST00000643857.1:c.2552G>A | ||
| ENST00000643929.1:n.681G>A | ||
| ENST00000643995.1:c.3611G>A | ||
| ENST00000644065.1:c.2825G>A | ||
| ENST00000644327.1:c.2860G>A | ||
| ENST00000644737.1:c.4098G>A | ENSP00000495548.1:p.Thr1366= | |
| ENST00000644963.1:c.2842G>A | ||
| ENST00000645061.1:c.2676G>A | ENSP00000493690.1:p.Thr892= | |
| ENST00000645236.1:c.737G>A | ||
| ENST00000645460.1:c.4089G>A | ENSP00000494463.1:p.Thr1363= | |
| ENST00000645648.1:c.2099G>A | ENSP00000493521.1:n.2099G>A | |
| ENST00000646183.1:c.2531G>A | ||
| ENST00000646484.1:c.4089G>A | ENSP00000495536.1:p.Thr1363= | |
| ENST00000646510.1:c.4089G>A | ENSP00000494772.1:p.Thr1363= | |
| ENST00000646593.1:c.2036G>A | ENSP00000494341.1:n.2036G>A | |
| ENST00000646693.1:c.4284G>A | ENSP00000495368.1:p.Thr1428= | |
| ENST00000646746.1:c.2488G>A | ||
| ENST00000646889.1:n.691G>A | ||
| ENST00000647230.1:c.4089G>A | ENSP00000494676.1:p.Thr1363= | |
| ENST00000647268.1:c.2442G>A | ENSP00000496176.1:p.Thr814= | |
| ENST00000344626.8:c.4188G>A | ENSP00000343896.4:p.Thr1396= | |
| ENST00000413806.7:c.4290G>A | ENSP00000414727.3:p.Thr1430= | |
| ENST00000429416.7:c.4188G>A | ENSP00000395654.1:p.Thr1396= | |
| ENST00000444061.7:c.4089G>A | ENSP00000392837.2:p.Thr1363= | |
| ENST00000450717.7:c.4284G>A | ENSP00000397783.3:p.Thr1428= | |
| ENST00000538456.3:n.502G>A | ||
| ENST00000541122.6:c.4098G>A | ENSP00000445036.2:p.Thr1366= | |
| ENST00000585799.5:n.2626G>A | ||
| ENST00000589677.5:c.4098G>A | ENSP00000464778.1:p.Thr1366= | |
| ENST00000590574.5:c.4089G>A | ENSP00000466963.1:p.Thr1363= | |
| ENST00000591595.5:n.2161G>A | ||
| ENST00000592158.1:c.267G>A | ENSP00000467200.1:p.Thr89= | |
| ENST00000592604.5:n.2011G>A | ||
| NM_001128844.1:c.4188G>A | NP_001122316.1:p.Thr1396= | |
| NM_001128845.1:c.4098G>A | NP_001122317.1:p.Thr1366= | |
| NM_001128846.1:c.4098G>A | NP_001122318.1:p.Thr1366= | |
| NM_001128847.1:c.4089G>A | NP_001122319.1:p.Thr1363= | |
| NM_001128848.1:c.4089G>A | NP_001122320.1:p.Thr1363= | |
| NM_001128849.1:c.4284G>A | NP_001122321.1:p.Thr1428= | |
| NM_003072.3:c.4188G>A | NP_003063.2:p.Thr1396= | |
| XM_005260028.2:c.4197G>A | XP_005260085.1:p.Thr1399= | |
| XM_005260030.2:c.4185G>A | XP_005260087.1:p.Thr1395= | |
| XM_005260031.2:c.4188G>A | XP_005260088.1:p.Thr1396= | |
| XM_005260032.2:c.4098G>A | XP_005260089.1:p.Thr1366= | |
| XM_005260033.2:c.4098G>A | XP_005260090.1:p.Thr1366= | |
| XM_005260034.2:c.4089G>A | XP_005260091.1:p.Thr1363= | |
| XM_005260035.2:c.4089G>A | XP_005260092.1:p.Thr1363= | |
| XM_006722845.2:c.4284G>A | XP_006722908.1:p.Thr1428= | |
| XM_006722846.2:c.4284G>A | XP_006722909.1:p.Thr1428= | |
| XM_006722847.2:c.4284G>A | XP_006722910.1:p.Thr1428= | |
| XM_011528198.1:c.4284G>A | XP_011526500.1:p.Thr1428= | |
| XM_024451658.1:c.4284G>A | XP_024307426.1:p.Thr1428= | |
| XM_024451659.1:c.4284G>A | XP_024307427.1:p.Thr1428= | |
| XM_024451660.1:c.4197G>A | XP_024307428.1:p.Thr1399= | |
| XM_024451661.1:c.4185G>A | XP_024307429.1:p.Thr1395= | |
| XM_024451662.1:c.4188G>A | XP_024307430.1:p.Thr1396= | |
| XM_024451663.1:c.4185G>A | XP_024307431.1:p.Thr1395= | |
| XM_024451664.1:c.4098G>A | XP_024307432.1:p.Thr1366= | |
| XM_024451665.1:c.4098G>A | XP_024307433.1:p.Thr1366= | |
| XM_024451666.1:c.4089G>A | XP_024307434.1:p.Thr1363= | |
| XM_024451667.1:c.4089G>A | XP_024307435.1:p.Thr1363= | |
| NM_001128844.3:c.4188G>A | NP_001122316.1:p.Thr1396= | |
| NM_001128845.2:c.4098G>A | NP_001122317.1:p.Thr1366= | |
| NM_001128846.2:c.4098G>A | NP_001122318.1:p.Thr1366= | |
| NM_001128847.4:c.4089G>A | NP_001122319.1:p.Thr1363= | |
| NM_001128848.2:c.4089G>A | NP_001122320.1:p.Thr1363= | |
| NM_001128849.3:c.4284G>A | NP_001122321.1:p.Thr1428= | |
| NM_001374457.1:c.4089G>A | NP_001361386.1:p.Thr1363= | |
| NM_003072.5:c.4188G>A MANE Select | NP_003063.2:p.Thr1396= | |
| NR_164683.1:n.4578G>A | ||
| NM_001387283.1:c.4284G>A MANE Plus Clinical | NP_001374212.1:p.Thr1428= |