Linked Data
ClinVar Variation Id:
1572690
ClinVar RCV Id:
RCV002219944
dbSNP Id:
rs1050673165
gnomAD v4:
2-201284877-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201284877A>G , CM000664.2:g.201284877A>G | GRCh38 |
| NC_000002.11:g.202149600A>G , CM000664.1:g.202149600A>G | GRCh37 |
| NC_000002.10:g.201857845A>G | NCBI36 |
| NG_007497.1:g.56420A>G , LRG_34:g.56420A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413726.6:c.864A>G | ENSP00000397528.2:p.Thr288= | |
| ENST00000440732.6:c.864A>G | ENSP00000396869.2:p.Thr288= | |
| ENST00000444430.3:c.612A>G | ENSP00000394434.3:p.Thr204= | |
| ENST00000450491.6:c.510A>G | ENSP00000391709.2:p.Thr170= | |
| ENST00000696067.1:c.864A>G | ENSP00000512369.1:p.Thr288= | |
| ENST00000696068.1:c.*91A>G | ENSP00000512370.1:n.*91A>G | |
| ENST00000696069.1:c.819A>G | ENSP00000512371.1:p.Thr273= | |
| ENST00000696085.1:c.996A>G | ENSP00000512381.1:p.Thr332= | |
| ENST00000696086.1:n.138A>G | ||
| ENST00000696087.1:c.819A>G | ENSP00000512382.1:p.Thr273= | |
| ENST00000673742.1:c.864A>G MANE Select | ENSP00000501268.1:p.Thr288= | |
| ENST00000264274.13:c.612A>G | ENSP00000264274.9:p.Thr204= | |
| ENST00000264275.9:c.915A>G | ENSP00000264275.5:p.Thr305= | |
| ENST00000323492.11:c.819A>G | ENSP00000325722.7:p.Thr273= | |
| ENST00000339403.6:n.1085A>G | ||
| ENST00000358485.8:c.1041A>G | ENSP00000351273.4:p.Thr347= | |
| ENST00000392263.6:c.819A>G | ENSP00000376091.2:p.Thr273= | |
| ENST00000432109.6:c.864A>G | ENSP00000412523.2:p.Thr288= | |
| ENST00000444430.2:c.201A>G | ENSP00000394434.2:p.Thr67= | |
| NM_001080124.1:c.819A>G | NP_001073593.1:p.Thr273= | |
| NM_001080125.1:c.1041A>G | NP_001073594.1:p.Thr347= | |
| NM_001228.4:c.915A>G , LRG_34t1:c.915A>G | NP_001219.2:p.Thr305= | |
| NM_033355.3:c.864A>G , LRG_34t2:c.864A>G | NP_203519.1:p.Thr288= | |
| NM_033356.3:c.819A>G | NP_203520.1:p.Thr273= | |
| NR_111983.1:n.1378A>G | ||
| XM_005246885.1:c.996A>G | XP_005246942.1:p.Thr332= | |
| XM_005246886.1:c.864A>G | XP_005246943.1:p.Thr288= | |
| XM_005246887.1:c.864A>G | XP_005246944.1:p.Thr288= | |
| XM_005246888.1:c.864A>G | XP_005246945.1:p.Thr288= | |
| XM_005246889.1:c.864A>G | XP_005246946.1:p.Thr288= | |
| XM_005246890.2:c.864A>G | XP_005246947.1:p.Thr288= | |
| XM_005246891.3:c.864A>G | XP_005246948.1:p.Thr288= | |
| XM_005246892.1:c.819A>G | XP_005246949.1:p.Thr273= | |
| XM_005246893.2:c.*91A>G | XP_005246950.1:n.*91A>G | |
| XM_005246894.2:c.267A>G | XP_005246951.1:p.Thr89= | |
| XM_005246895.2:c.*91A>G | XP_005246952.1:n.*91A>G | |
| XM_006712789.1:c.864A>G | XP_006712852.1:p.Thr288= | |
| XM_006712790.2:c.864A>G | XP_006712853.1:p.Thr288= | |
| XM_006712791.1:c.789A>G | XP_006712854.1:p.Thr263= | |
| XM_006712793.2:c.*91A>G | XP_006712856.1:n.*91A>G | |
| XM_011511969.1:c.429A>G | XP_011510271.1:p.Thr143= | |
| XR_923035.1:n.1133A>G | ||
| XM_005246885.2:c.996A>G | XP_005246942.1:p.Thr332= | |
| XM_005246886.2:c.864A>G | XP_005246943.1:p.Thr288= | |
| XM_005246887.2:c.864A>G | XP_005246944.1:p.Thr288= | |
| XM_005246888.2:c.864A>G | XP_005246945.1:p.Thr288= | |
| XM_005246889.2:c.864A>G | XP_005246946.1:p.Thr288= | |
| XM_005246890.4:c.864A>G | XP_005246947.1:p.Thr288= | |
| XM_005246891.5:c.864A>G | XP_005246948.1:p.Thr288= | |
| XM_005246892.2:c.819A>G | XP_005246949.1:p.Thr273= | |
| XM_005246893.3:c.*91A>G | XP_005246950.1:n.*91A>G | |
| XM_005246894.4:c.267A>G | XP_005246951.1:p.Thr89= | |
| XM_005246895.3:c.*91A>G | XP_005246952.1:n.*91A>G | |
| XM_006712789.2:c.864A>G | XP_006712852.1:p.Thr288= | |
| XM_006712790.4:c.864A>G | XP_006712853.1:p.Thr288= | |
| XM_006712793.3:c.*91A>G | XP_006712856.1:n.*91A>G | |
| XM_011511969.2:c.429A>G | XP_011510271.1:p.Thr143= | |
| XR_001738971.1:n.1211A>G | ||
| NM_001080124.2:c.819A>G | NP_001073593.1:p.Thr273= | |
| NM_001080125.2:c.1041A>G | NP_001073594.1:p.Thr347= | |
| NM_001372051.1:c.864A>G MANE Select | NP_001358980.1:p.Thr288= | |
| NM_033356.4:c.819A>G | NP_203520.1:p.Thr273= | |
| NR_111983.2:n.1374A>G | ||
| NM_001400642.1:c.996A>G | NP_001387571.1:p.Thr332= | |
| NM_001400645.1:c.897A>G | NP_001387574.1:p.Thr299= | |
| NM_001400648.1:c.864A>G | NP_001387577.1:p.Thr288= | |
| NM_001400651.1:c.864A>G | NP_001387580.1:p.Thr288= | |
| NM_001400653.1:c.864A>G | NP_001387582.1:p.Thr288= | |
| NM_001400654.1:c.864A>G | NP_001387583.1:p.Thr288= | |
| NM_001400655.1:c.864A>G | NP_001387584.1:p.Thr288= | |
| NM_001400656.1:c.864A>G | NP_001387585.1:p.Thr288= | |
| NM_001400657.1:c.864A>G | NP_001387586.1:p.Thr288= | |
| NM_001400658.1:c.819A>G | NP_001387587.1:p.Thr273= | |
| NM_001400659.1:c.819A>G | NP_001387588.1:p.Thr273= | |
| NM_001400660.1:c.819A>G | NP_001387589.1:p.Thr273= | |
| NM_001400661.1:c.819A>G | NP_001387590.1:p.Thr273= | |
| NM_001400662.1:c.819A>G | NP_001387591.1:p.Thr273= | |
| NM_001400663.1:c.819A>G | NP_001387592.1:p.Thr273= | |
| NM_001400664.1:c.795A>G | NP_001387593.1:p.Thr265= | |
| NM_001400665.1:c.789A>G | NP_001387594.1:p.Thr263= | |
| NM_001400666.1:c.657A>G | NP_001387595.1:p.Thr219= | |
| NM_001400667.1:c.612A>G | NP_001387596.1:p.Thr204= | |
| NM_001400668.1:c.612A>G | NP_001387597.1:p.Thr204= | |
| NM_001400669.1:c.555A>G | NP_001387598.1:p.Thr185= | |
| NM_001400670.1:c.803-386A>G | NP_001387599.1:n.803-386A>G | |
| NM_001400671.1:c.267A>G | NP_001387600.1:p.Thr89= | |
| NM_001400672.1:c.267A>G | NP_001387601.1:p.Thr89= | |
| NM_001400673.1:c.267A>G | NP_001387602.1:p.Thr89= | |
| NM_001400674.1:c.249A>G | NP_001387603.1:p.Thr83= | |
| NM_001400675.1:c.222A>G | NP_001387604.1:p.Thr74= | |
| NM_001400676.1:c.222A>G | NP_001387605.1:p.Thr74= | |
| NM_001400677.1:c.222A>G | NP_001387606.1:p.Thr74= | |
| NM_001400678.1:c.222A>G | NP_001387607.1:p.Thr74= | |
| NM_001400680.1:c.249A>G | NP_001387609.1:p.Thr83= | |
| NM_001400750.1:c.267A>G | NP_001387679.1:p.Thr89= | |
| NM_001400751.1:c.222A>G | NP_001387680.1:p.Thr74= | |
| NR_174564.1:n.953A>G | ||
| NR_174565.1:n.1083A>G | ||
| NR_174581.1:n.1109A>G | ||
| NR_174583.1:n.1215A>G | ||
| NR_174584.1:n.1128A>G | ||
| NR_174585.1:n.1146A>G | ||
| NR_174586.1:n.1120A>G | ||
| NR_174588.1:n.1283A>G | ||
| NR_174589.1:n.1078A>G | ||
| NR_174590.1:n.1170A>G | ||
| NR_174591.1:n.1101A>G | ||
| NR_174592.1:n.1446A>G | ||
| NR_174593.1:n.1244A>G | ||
| NR_174594.1:n.1287A>G | ||
| NR_174595.1:n.1202A>G | ||
| NR_174596.1:n.1039A>G | ||
| NR_174598.1:n.1397A>G | ||
| NR_174599.1:n.781A>G | ||
| NR_174600.1:n.1309A>G | ||
| NR_174601.1:n.1234A>G | ||
| NR_174602.1:n.1104A>G |