Linked Data
ClinVar Variation Id:
7762
ClinVar RCV Id:
RCV001711066
dbSNP Id:
rs1045485
ExAC:
2:202149589 G / C
gnomAD v2:
2-202149589-G-C
gnomAD v3:
2-201284866-G-C
gnomAD v4:
2-201284866-G-C
CIViC:
CA119051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201284866G>C , CM000664.2:g.201284866G>C | GRCh38 |
| NC_000002.11:g.202149589G>C , CM000664.1:g.202149589G>C | GRCh37 |
| NC_000002.10:g.201857834G>C | NCBI36 |
| NG_007497.1:g.56409G>C , LRG_34:g.56409G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413726.6:c.853G>C | ENSP00000397528.2:p.Asp285His | |
| ENST00000440732.6:c.853G>C | ENSP00000396869.2:p.Asp285His | |
| ENST00000444430.3:c.601G>C | ENSP00000394434.3:p.Asp201His | |
| ENST00000450491.6:c.499G>C | ENSP00000391709.2:p.Asp167His | |
| ENST00000696067.1:c.853G>C | ENSP00000512369.1:p.Asp285His | |
| ENST00000696068.1:c.*80G>C | ENSP00000512370.1:n.*80G>C | |
| ENST00000696069.1:c.808G>C | ENSP00000512371.1:p.Asp270His | |
| ENST00000696085.1:c.985G>C | ENSP00000512381.1:p.Asp329His | |
| ENST00000696086.1:n.127G>C | ||
| ENST00000696087.1:c.808G>C | ENSP00000512382.1:p.Asp270His | |
| ENST00000673742.1:c.853G>C MANE Select | ENSP00000501268.1:p.Asp285His | |
| ENST00000264274.13:c.601G>C | ENSP00000264274.9:p.Asp201His | |
| ENST00000264275.9:c.904G>C | ENSP00000264275.5:p.Asp302His | |
| ENST00000323492.11:c.808G>C | ENSP00000325722.7:p.Asp270His | |
| ENST00000339403.6:n.1074G>C | ||
| ENST00000358485.8:c.1030G>C | ENSP00000351273.4:p.Asp344His | |
| ENST00000392263.6:c.808G>C | ENSP00000376091.2:p.Asp270His | |
| ENST00000432109.6:c.853G>C | ENSP00000412523.2:p.Asp285His | |
| ENST00000444430.2:c.190G>C | ENSP00000394434.2:p.Asp64His | |
| NM_001080124.1:c.808G>C | NP_001073593.1:p.Asp270His | |
| NM_001080125.1:c.1030G>C | NP_001073594.1:p.Asp344His | |
| NM_001228.4:c.904G>C , LRG_34t1:c.904G>C | NP_001219.2:p.Asp302His | |
| NM_033355.3:c.853G>C , LRG_34t2:c.853G>C | NP_203519.1:p.Asp285His | |
| NM_033356.3:c.808G>C | NP_203520.1:p.Asp270His | |
| NR_111983.1:n.1367G>C | ||
| XM_005246885.1:c.985G>C | XP_005246942.1:p.Asp329His | |
| XM_005246886.1:c.853G>C | XP_005246943.1:p.Asp285His | |
| XM_005246887.1:c.853G>C | XP_005246944.1:p.Asp285His | |
| XM_005246888.1:c.853G>C | XP_005246945.1:p.Asp285His | |
| XM_005246889.1:c.853G>C | XP_005246946.1:p.Asp285His | |
| XM_005246890.2:c.853G>C | XP_005246947.1:p.Asp285His | |
| XM_005246891.3:c.853G>C | XP_005246948.1:p.Asp285His | |
| XM_005246892.1:c.808G>C | XP_005246949.1:p.Asp270His | |
| XM_005246893.2:c.*80G>C | XP_005246950.1:n.*80G>C | |
| XM_005246894.2:c.256G>C | XP_005246951.1:p.Asp86His | |
| XM_005246895.2:c.*80G>C | XP_005246952.1:n.*80G>C | |
| XM_006712789.1:c.853G>C | XP_006712852.1:p.Asp285His | |
| XM_006712790.2:c.853G>C | XP_006712853.1:p.Asp285His | |
| XM_006712791.1:c.778G>C | XP_006712854.1:p.Asp260His | |
| XM_006712793.2:c.*80G>C | XP_006712856.1:n.*80G>C | |
| XM_011511969.1:c.418G>C | XP_011510271.1:p.Asp140His | |
| XR_923035.1:n.1122G>C | ||
| XM_005246885.2:c.985G>C | XP_005246942.1:p.Asp329His | |
| XM_005246886.2:c.853G>C | XP_005246943.1:p.Asp285His | |
| XM_005246887.2:c.853G>C | XP_005246944.1:p.Asp285His | |
| XM_005246888.2:c.853G>C | XP_005246945.1:p.Asp285His | |
| XM_005246889.2:c.853G>C | XP_005246946.1:p.Asp285His | |
| XM_005246890.4:c.853G>C | XP_005246947.1:p.Asp285His | |
| XM_005246891.5:c.853G>C | XP_005246948.1:p.Asp285His | |
| XM_005246892.2:c.808G>C | XP_005246949.1:p.Asp270His | |
| XM_005246893.3:c.*80G>C | XP_005246950.1:n.*80G>C | |
| XM_005246894.4:c.256G>C | XP_005246951.1:p.Asp86His | |
| XM_005246895.3:c.*80G>C | XP_005246952.1:n.*80G>C | |
| XM_006712789.2:c.853G>C | XP_006712852.1:p.Asp285His | |
| XM_006712790.4:c.853G>C | XP_006712853.1:p.Asp285His | |
| XM_006712793.3:c.*80G>C | XP_006712856.1:n.*80G>C | |
| XM_011511969.2:c.418G>C | XP_011510271.1:p.Asp140His | |
| XR_001738971.1:n.1200G>C | ||
| NM_001080124.2:c.808G>C | NP_001073593.1:p.Asp270His | |
| NM_001080125.2:c.1030G>C | NP_001073594.1:p.Asp344His | |
| NM_001372051.1:c.853G>C MANE Select | NP_001358980.1:p.Asp285His | |
| NM_033356.4:c.808G>C | NP_203520.1:p.Asp270His | |
| NR_111983.2:n.1363G>C | ||
| NM_001400642.1:c.985G>C | NP_001387571.1:p.Asp329His | |
| NM_001400645.1:c.886G>C | NP_001387574.1:p.Asp296His | |
| NM_001400648.1:c.853G>C | NP_001387577.1:p.Asp285His | |
| NM_001400651.1:c.853G>C | NP_001387580.1:p.Asp285His | |
| NM_001400653.1:c.853G>C | NP_001387582.1:p.Asp285His | |
| NM_001400654.1:c.853G>C | NP_001387583.1:p.Asp285His | |
| NM_001400655.1:c.853G>C | NP_001387584.1:p.Asp285His | |
| NM_001400656.1:c.853G>C | NP_001387585.1:p.Asp285His | |
| NM_001400657.1:c.853G>C | NP_001387586.1:p.Asp285His | |
| NM_001400658.1:c.808G>C | NP_001387587.1:p.Asp270His | |
| NM_001400659.1:c.808G>C | NP_001387588.1:p.Asp270His | |
| NM_001400660.1:c.808G>C | NP_001387589.1:p.Asp270His | |
| NM_001400661.1:c.808G>C | NP_001387590.1:p.Asp270His | |
| NM_001400662.1:c.808G>C | NP_001387591.1:p.Asp270His | |
| NM_001400663.1:c.808G>C | NP_001387592.1:p.Asp270His | |
| NM_001400664.1:c.784G>C | NP_001387593.1:p.Asp262His | |
| NM_001400665.1:c.778G>C | NP_001387594.1:p.Asp260His | |
| NM_001400666.1:c.646G>C | NP_001387595.1:p.Asp216His | |
| NM_001400667.1:c.601G>C | NP_001387596.1:p.Asp201His | |
| NM_001400668.1:c.601G>C | NP_001387597.1:p.Asp201His | |
| NM_001400669.1:c.544G>C | NP_001387598.1:p.Asp182His | |
| NM_001400670.1:c.803-397G>C | NP_001387599.1:n.803-397G>C | |
| NM_001400671.1:c.256G>C | NP_001387600.1:p.Asp86His | |
| NM_001400672.1:c.256G>C | NP_001387601.1:p.Asp86His | |
| NM_001400673.1:c.256G>C | NP_001387602.1:p.Asp86His | |
| NM_001400674.1:c.238G>C | NP_001387603.1:p.Asp80His | |
| NM_001400675.1:c.211G>C | NP_001387604.1:p.Asp71His | |
| NM_001400676.1:c.211G>C | NP_001387605.1:p.Asp71His | |
| NM_001400677.1:c.211G>C | NP_001387606.1:p.Asp71His | |
| NM_001400678.1:c.211G>C | NP_001387607.1:p.Asp71His | |
| NM_001400680.1:c.238G>C | NP_001387609.1:p.Asp80His | |
| NM_001400750.1:c.256G>C | NP_001387679.1:p.Asp86His | |
| NM_001400751.1:c.211G>C | NP_001387680.1:p.Asp71His | |
| NR_174564.1:n.942G>C | ||
| NR_174565.1:n.1072G>C | ||
| NR_174581.1:n.1098G>C | ||
| NR_174583.1:n.1204G>C | ||
| NR_174584.1:n.1117G>C | ||
| NR_174585.1:n.1135G>C | ||
| NR_174586.1:n.1109G>C | ||
| NR_174588.1:n.1272G>C | ||
| NR_174589.1:n.1067G>C | ||
| NR_174590.1:n.1159G>C | ||
| NR_174591.1:n.1090G>C | ||
| NR_174592.1:n.1435G>C | ||
| NR_174593.1:n.1233G>C | ||
| NR_174594.1:n.1276G>C | ||
| NR_174595.1:n.1191G>C | ||
| NR_174596.1:n.1028G>C | ||
| NR_174598.1:n.1386G>C | ||
| NR_174599.1:n.770G>C | ||
| NR_174600.1:n.1298G>C | ||
| NR_174601.1:n.1223G>C | ||
| NR_174602.1:n.1093G>C |