Linked Data
ClinVar Variation Id:
333503
ClinVar RCV Id:
RCV000392973
dbSNP Id:
rs199934929
ExAC:
2:202149579 C / A
gnomAD v2:
2-202149579-C-A
gnomAD v3:
2-201284856-C-A
gnomAD v4:
2-201284856-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201284856C>A , CM000664.2:g.201284856C>A | GRCh38 |
| NC_000002.11:g.202149579C>A , CM000664.1:g.202149579C>A | GRCh37 |
| NC_000002.10:g.201857824C>A | NCBI36 |
| NG_007497.1:g.56399C>A , LRG_34:g.56399C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.843C>A | ENSP00000397528.2:p.Ile281= | |
| ENST00000440732.6:c.843C>A | ENSP00000396869.2:p.Ile281= | |
| ENST00000444430.3:c.591C>A | ENSP00000394434.3:p.Ile197= | |
| ENST00000450491.6:c.489C>A | ENSP00000391709.2:p.Ile163= | |
| ENST00000696067.1:c.843C>A | ENSP00000512369.1:p.Ile281= | |
| ENST00000696068.1:c.*70C>A | ENSP00000512370.1:n.*70C>A | |
| ENST00000696069.1:c.798C>A | ENSP00000512371.1:p.Ile266= | |
| ENST00000696085.1:c.975C>A | ENSP00000512381.1:p.Ile325= | |
| ENST00000696086.1:n.117C>A | ||
| ENST00000696087.1:c.798C>A | ENSP00000512382.1:p.Ile266= | |
| ENST00000673742.1:c.843C>A MANE Select | ENSP00000501268.1:p.Ile281= | |
| ENST00000264274.13:c.591C>A | ENSP00000264274.9:p.Ile197= | |
| ENST00000264275.9:c.894C>A | ENSP00000264275.5:p.Ile298= | |
| ENST00000323492.11:c.798C>A | ENSP00000325722.7:p.Ile266= | |
| ENST00000339403.6:n.1064C>A | ||
| ENST00000358485.8:c.1020C>A | ENSP00000351273.4:p.Ile340= | |
| ENST00000392263.6:c.798C>A | ENSP00000376091.2:p.Ile266= | |
| ENST00000432109.6:c.843C>A | ENSP00000412523.2:p.Ile281= | |
| ENST00000444430.2:c.180C>A | ENSP00000394434.2:p.Ile60= | |
| NM_001080124.1:c.798C>A | NP_001073593.1:p.Ile266= | |
| NM_001080125.1:c.1020C>A | NP_001073594.1:p.Ile340= | |
| NM_001228.4:c.894C>A , LRG_34t1:c.894C>A | NP_001219.2:p.Ile298= | |
| NM_033355.3:c.843C>A , LRG_34t2:c.843C>A | NP_203519.1:p.Ile281= | |
| NM_033356.3:c.798C>A | NP_203520.1:p.Ile266= | |
| NR_111983.1:n.1357C>A | ||
| XM_005246885.1:c.975C>A | XP_005246942.1:p.Ile325= | |
| XM_005246886.1:c.843C>A | XP_005246943.1:p.Ile281= | |
| XM_005246887.1:c.843C>A | XP_005246944.1:p.Ile281= | |
| XM_005246888.1:c.843C>A | XP_005246945.1:p.Ile281= | |
| XM_005246889.1:c.843C>A | XP_005246946.1:p.Ile281= | |
| XM_005246890.2:c.843C>A | XP_005246947.1:p.Ile281= | |
| XM_005246891.3:c.843C>A | XP_005246948.1:p.Ile281= | |
| XM_005246892.1:c.798C>A | XP_005246949.1:p.Ile266= | |
| XM_005246893.2:c.*70C>A | XP_005246950.1:n.*70C>A | |
| XM_005246894.2:c.246C>A | XP_005246951.1:p.Ile82= | |
| XM_005246895.2:c.*70C>A | XP_005246952.1:n.*70C>A | |
| XM_006712789.1:c.843C>A | XP_006712852.1:p.Ile281= | |
| XM_006712790.2:c.843C>A | XP_006712853.1:p.Ile281= | |
| XM_006712791.1:c.768C>A | XP_006712854.1:p.Ile256= | |
| XM_006712793.2:c.*70C>A | XP_006712856.1:n.*70C>A | |
| XM_011511969.1:c.408C>A | XP_011510271.1:p.Ile136= | |
| XR_923035.1:n.1112C>A | ||
| XM_005246885.2:c.975C>A | XP_005246942.1:p.Ile325= | |
| XM_005246886.2:c.843C>A | XP_005246943.1:p.Ile281= | |
| XM_005246887.2:c.843C>A | XP_005246944.1:p.Ile281= | |
| XM_005246888.2:c.843C>A | XP_005246945.1:p.Ile281= | |
| XM_005246889.2:c.843C>A | XP_005246946.1:p.Ile281= | |
| XM_005246890.4:c.843C>A | XP_005246947.1:p.Ile281= | |
| XM_005246891.5:c.843C>A | XP_005246948.1:p.Ile281= | |
| XM_005246892.2:c.798C>A | XP_005246949.1:p.Ile266= | |
| XM_005246893.3:c.*70C>A | XP_005246950.1:n.*70C>A | |
| XM_005246894.4:c.246C>A | XP_005246951.1:p.Ile82= | |
| XM_005246895.3:c.*70C>A | XP_005246952.1:n.*70C>A | |
| XM_006712789.2:c.843C>A | XP_006712852.1:p.Ile281= | |
| XM_006712790.4:c.843C>A | XP_006712853.1:p.Ile281= | |
| XM_006712793.3:c.*70C>A | XP_006712856.1:n.*70C>A | |
| XM_011511969.2:c.408C>A | XP_011510271.1:p.Ile136= | |
| XR_001738971.1:n.1190C>A | ||
| NM_001080124.2:c.798C>A | NP_001073593.1:p.Ile266= | |
| NM_001080125.2:c.1020C>A | NP_001073594.1:p.Ile340= | |
| NM_001372051.1:c.843C>A MANE Select | NP_001358980.1:p.Ile281= | |
| NM_033356.4:c.798C>A | NP_203520.1:p.Ile266= | |
| NR_111983.2:n.1353C>A | ||
| NM_001400642.1:c.975C>A | NP_001387571.1:p.Ile325= | |
| NM_001400645.1:c.876C>A | NP_001387574.1:p.Ile292= | |
| NM_001400648.1:c.843C>A | NP_001387577.1:p.Ile281= | |
| NM_001400651.1:c.843C>A | NP_001387580.1:p.Ile281= | |
| NM_001400653.1:c.843C>A | NP_001387582.1:p.Ile281= | |
| NM_001400654.1:c.843C>A | NP_001387583.1:p.Ile281= | |
| NM_001400655.1:c.843C>A | NP_001387584.1:p.Ile281= | |
| NM_001400656.1:c.843C>A | NP_001387585.1:p.Ile281= | |
| NM_001400657.1:c.843C>A | NP_001387586.1:p.Ile281= | |
| NM_001400658.1:c.798C>A | NP_001387587.1:p.Ile266= | |
| NM_001400659.1:c.798C>A | NP_001387588.1:p.Ile266= | |
| NM_001400660.1:c.798C>A | NP_001387589.1:p.Ile266= | |
| NM_001400661.1:c.798C>A | NP_001387590.1:p.Ile266= | |
| NM_001400662.1:c.798C>A | NP_001387591.1:p.Ile266= | |
| NM_001400663.1:c.798C>A | NP_001387592.1:p.Ile266= | |
| NM_001400664.1:c.774C>A | NP_001387593.1:p.Ile258= | |
| NM_001400665.1:c.768C>A | NP_001387594.1:p.Ile256= | |
| NM_001400666.1:c.636C>A | NP_001387595.1:p.Ile212= | |
| NM_001400667.1:c.591C>A | NP_001387596.1:p.Ile197= | |
| NM_001400668.1:c.591C>A | NP_001387597.1:p.Ile197= | |
| NM_001400669.1:c.534C>A | NP_001387598.1:p.Ile178= | |
| NM_001400670.1:c.803-407C>A | NP_001387599.1:n.803-407C>A | |
| NM_001400671.1:c.246C>A | NP_001387600.1:p.Ile82= | |
| NM_001400672.1:c.246C>A | NP_001387601.1:p.Ile82= | |
| NM_001400673.1:c.246C>A | NP_001387602.1:p.Ile82= | |
| NM_001400674.1:c.228C>A | NP_001387603.1:p.Ile76= | |
| NM_001400675.1:c.201C>A | NP_001387604.1:p.Ile67= | |
| NM_001400676.1:c.201C>A | NP_001387605.1:p.Ile67= | |
| NM_001400677.1:c.201C>A | NP_001387606.1:p.Ile67= | |
| NM_001400678.1:c.201C>A | NP_001387607.1:p.Ile67= | |
| NM_001400680.1:c.228C>A | NP_001387609.1:p.Ile76= | |
| NM_001400750.1:c.246C>A | NP_001387679.1:p.Ile82= | |
| NM_001400751.1:c.201C>A | NP_001387680.1:p.Ile67= | |
| NR_174564.1:n.932C>A | ||
| NR_174565.1:n.1062C>A | ||
| NR_174581.1:n.1088C>A | ||
| NR_174583.1:n.1194C>A | ||
| NR_174584.1:n.1107C>A | ||
| NR_174585.1:n.1125C>A | ||
| NR_174586.1:n.1099C>A | ||
| NR_174588.1:n.1262C>A | ||
| NR_174589.1:n.1057C>A | ||
| NR_174590.1:n.1149C>A | ||
| NR_174591.1:n.1080C>A | ||
| NR_174592.1:n.1425C>A | ||
| NR_174593.1:n.1223C>A | ||
| NR_174594.1:n.1266C>A | ||
| NR_174595.1:n.1181C>A | ||
| NR_174596.1:n.1018C>A | ||
| NR_174598.1:n.1376C>A | ||
| NR_174599.1:n.760C>A | ||
| NR_174600.1:n.1288C>A | ||
| NR_174601.1:n.1213C>A | ||
| NR_174602.1:n.1083C>A |