Linked Data
ClinVar Variation Id:
333507
ClinVar RCV Id:
RCV000360030
dbSNP Id:
rs375465590
ExAC:
2:202150052 C / T
gnomAD v2:
2-202150052-C-T
gnomAD v3:
2-201285329-C-T
gnomAD v4:
2-201285329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201285329C>T , CM000664.2:g.201285329C>T | GRCh38 |
| NC_000002.11:g.202150052C>T , CM000664.1:g.202150052C>T | GRCh37 |
| NC_000002.10:g.201858297C>T | NCBI36 |
| NG_007497.1:g.56872C>T , LRG_34:g.56872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.1304+12C>T | ENSP00000397528.2:n.1304+12C>T | |
| ENST00000440732.6:c.1304+12C>T | ENSP00000396869.2:n.1304+12C>T | |
| ENST00000444430.3:c.1052+12C>T | ENSP00000394434.3:n.1052+12C>T | |
| ENST00000450491.6:c.950+12C>T | ENSP00000391709.2:n.950+12C>T | |
| ENST00000696067.1:c.1304+12C>T | ENSP00000512369.1:n.1304+12C>T | |
| ENST00000696068.1:c.*531+12C>T | ENSP00000512370.1:n.*531+12C>T | |
| ENST00000696069.1:c.1259+12C>T | ENSP00000512371.1:n.1259+12C>T | |
| ENST00000696085.1:c.1436+12C>T | ENSP00000512381.1:n.1436+12C>T | |
| ENST00000696086.1:n.578+12C>T | ||
| ENST00000696087.1:c.1259+12C>T | ENSP00000512382.1:n.1259+12C>T | |
| ENST00000673742.1:c.1304+12C>T MANE Select | ENSP00000501268.1:n.1304+12C>T | |
| ENST00000264274.13:c.1052+12C>T | ENSP00000264274.9:n.1052+12C>T | |
| ENST00000264275.9:c.1355+12C>T | ENSP00000264275.5:n.1355+12C>T | |
| ENST00000323492.11:c.1259+12C>T | ENSP00000325722.7:n.1259+12C>T | |
| ENST00000339403.6:n.1525+12C>T | ||
| ENST00000358485.8:c.1481+12C>T | ENSP00000351273.4:n.1481+12C>T | |
| ENST00000392263.6:c.1259+12C>T | ENSP00000376091.2:n.1259+12C>T | |
| ENST00000432109.6:c.1304+12C>T | ENSP00000412523.2:n.1304+12C>T | |
| ENST00000444430.2:c.641+12C>T | ENSP00000394434.2:n.641+12C>T | |
| NM_001080124.1:c.1259+12C>T | NP_001073593.1:n.1259+12C>T | |
| NM_001080125.1:c.1481+12C>T | NP_001073594.1:n.1481+12C>T | |
| NM_001228.4:c.1355+12C>T , LRG_34t1:c.1355+12C>T | NP_001219.2:n.1355+12C>T | |
| NM_033355.3:c.1304+12C>T , LRG_34t2:c.1304+12C>T | NP_203519.1:n.1304+12C>T | |
| NM_033356.3:c.1259+12C>T | NP_203520.1:n.1259+12C>T | |
| NR_111983.1:n.1818+12C>T | ||
| XM_005246885.1:c.1436+12C>T | XP_005246942.1:n.1436+12C>T | |
| XM_005246886.1:c.1304+12C>T | XP_005246943.1:n.1304+12C>T | |
| XM_005246887.1:c.1304+12C>T | XP_005246944.1:n.1304+12C>T | |
| XM_005246888.1:c.1304+12C>T | XP_005246945.1:n.1304+12C>T | |
| XM_005246889.1:c.1304+12C>T | XP_005246946.1:n.1304+12C>T | |
| XM_005246890.2:c.1304+12C>T | XP_005246947.1:n.1304+12C>T | |
| XM_005246891.3:c.1304+12C>T | XP_005246948.1:n.1304+12C>T | |
| XM_005246892.1:c.1259+12C>T | XP_005246949.1:n.1259+12C>T | |
| XM_005246894.2:c.707+12C>T | XP_005246951.1:n.707+12C>T | |
| XM_006712789.1:c.1304+12C>T | XP_006712852.1:n.1304+12C>T | |
| XM_006712790.2:c.1304+12C>T | XP_006712853.1:n.1304+12C>T | |
| XM_006712791.1:c.1229+12C>T | XP_006712854.1:n.1229+12C>T | |
| XM_011511969.1:c.869+12C>T | XP_011510271.1:n.869+12C>T | |
| XM_005246885.2:c.1436+12C>T | XP_005246942.1:n.1436+12C>T | |
| XM_005246886.2:c.1304+12C>T | XP_005246943.1:n.1304+12C>T | |
| XM_005246887.2:c.1304+12C>T | XP_005246944.1:n.1304+12C>T | |
| XM_005246888.2:c.1304+12C>T | XP_005246945.1:n.1304+12C>T | |
| XM_005246889.2:c.1304+12C>T | XP_005246946.1:n.1304+12C>T | |
| XM_005246890.4:c.1304+12C>T | XP_005246947.1:n.1304+12C>T | |
| XM_005246891.5:c.1304+12C>T | XP_005246948.1:n.1304+12C>T | |
| XM_005246892.2:c.1259+12C>T | XP_005246949.1:n.1259+12C>T | |
| XM_005246894.4:c.707+12C>T | XP_005246951.1:n.707+12C>T | |
| XM_006712789.2:c.1304+12C>T | XP_006712852.1:n.1304+12C>T | |
| XM_006712790.4:c.1304+12C>T | XP_006712853.1:n.1304+12C>T | |
| XM_011511969.2:c.869+12C>T | XP_011510271.1:n.869+12C>T | |
| NM_001080124.2:c.1259+12C>T | NP_001073593.1:n.1259+12C>T | |
| NM_001080125.2:c.1481+12C>T | NP_001073594.1:n.1481+12C>T | |
| NM_001372051.1:c.1304+12C>T MANE Select | NP_001358980.1:n.1304+12C>T | |
| NM_033356.4:c.1259+12C>T | NP_203520.1:n.1259+12C>T | |
| NR_111983.2:n.1814+12C>T | ||
| NM_001400642.1:c.1436+12C>T | NP_001387571.1:n.1436+12C>T | |
| NM_001400645.1:c.1337+12C>T | NP_001387574.1:n.1337+12C>T | |
| NM_001400648.1:c.1304+12C>T | NP_001387577.1:n.1304+12C>T | |
| NM_001400651.1:c.1304+12C>T | NP_001387580.1:n.1304+12C>T | |
| NM_001400653.1:c.1304+12C>T | NP_001387582.1:n.1304+12C>T | |
| NM_001400654.1:c.1304+12C>T | NP_001387583.1:n.1304+12C>T | |
| NM_001400655.1:c.1304+12C>T | NP_001387584.1:n.1304+12C>T | |
| NM_001400656.1:c.1304+12C>T | NP_001387585.1:n.1304+12C>T | |
| NM_001400657.1:c.1304+12C>T | NP_001387586.1:n.1304+12C>T | |
| NM_001400658.1:c.1259+12C>T | NP_001387587.1:n.1259+12C>T | |
| NM_001400659.1:c.1259+12C>T | NP_001387588.1:n.1259+12C>T | |
| NM_001400660.1:c.1259+12C>T | NP_001387589.1:n.1259+12C>T | |
| NM_001400661.1:c.1259+12C>T | NP_001387590.1:n.1259+12C>T | |
| NM_001400662.1:c.1259+12C>T | NP_001387591.1:n.1259+12C>T | |
| NM_001400663.1:c.1259+12C>T | NP_001387592.1:n.1259+12C>T | |
| NM_001400664.1:c.1235+12C>T | NP_001387593.1:n.1235+12C>T | |
| NM_001400665.1:c.1229+12C>T | NP_001387594.1:n.1229+12C>T | |
| NM_001400666.1:c.1097+12C>T | NP_001387595.1:n.1097+12C>T | |
| NM_001400667.1:c.1052+12C>T | NP_001387596.1:n.1052+12C>T | |
| NM_001400668.1:c.1052+12C>T | NP_001387597.1:n.1052+12C>T | |
| NM_001400669.1:c.995+12C>T | NP_001387598.1:n.995+12C>T | |
| NM_001400670.1:c.857+12C>T | NP_001387599.1:n.857+12C>T | |
| NM_001400671.1:c.707+12C>T | NP_001387600.1:n.707+12C>T | |
| NM_001400672.1:c.707+12C>T | NP_001387601.1:n.707+12C>T | |
| NM_001400673.1:c.707+12C>T | NP_001387602.1:n.707+12C>T | |
| NM_001400674.1:c.689+12C>T | NP_001387603.1:n.689+12C>T | |
| NM_001400675.1:c.662+12C>T | NP_001387604.1:n.662+12C>T | |
| NM_001400676.1:c.662+12C>T | NP_001387605.1:n.662+12C>T | |
| NM_001400677.1:c.662+12C>T | NP_001387606.1:n.662+12C>T | |
| NM_001400678.1:c.662+12C>T | NP_001387607.1:n.662+12C>T | |
| NM_001400680.1:c.689+12C>T | NP_001387609.1:n.689+12C>T | |
| NM_001400750.1:c.707+12C>T | NP_001387679.1:n.707+12C>T | |
| NM_001400751.1:c.662+12C>T | NP_001387680.1:n.662+12C>T | |
| NR_174564.1:n.1393+12C>T | ||
| NR_174565.1:n.1523+12C>T | ||
| NR_174581.1:n.1549+12C>T | ||
| NR_174583.1:n.1655+12C>T | ||
| NR_174584.1:n.1568+12C>T | ||
| NR_174585.1:n.1586+12C>T | ||
| NR_174586.1:n.1560+12C>T | ||
| NR_174588.1:n.1723+12C>T | ||
| NR_174589.1:n.1518+12C>T | ||
| NR_174590.1:n.1610+12C>T | ||
| NR_174591.1:n.1541+12C>T | ||
| NR_174592.1:n.1886+12C>T | ||
| NR_174593.1:n.1684+12C>T | ||
| NR_174594.1:n.1727+12C>T | ||
| NR_174595.1:n.1642+12C>T | ||
| NR_174596.1:n.1479+12C>T | ||
| NR_174598.1:n.1837+12C>T | ||
| NR_174599.1:n.1221+12C>T | ||
| NR_174600.1:n.1749+12C>T | ||
| NR_174601.1:n.1674+12C>T | ||
| NR_174602.1:n.1544+12C>T |