Linked Data
ClinVar Variation Id:
378640
dbSNP Id:
rs371986686
ExAC:
16:89611050 C / T
gnomAD v2:
16-89611050-C-T
gnomAD v3:
16-89544642-C-T
gnomAD v4:
16-89544642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89544642C>T , CM000678.2:g.89544642C>T | GRCh38 |
| NC_000016.9:g.89611050C>T , CM000678.1:g.89611050C>T | GRCh37 |
| NC_000016.8:g.88138551C>T | NCBI36 |
| NG_008082.1:g.41246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1304-6C>T | ENSP00000268704.3:n.1304-6C>T | |
| ENST00000561945.2:n.470-6C>T | ||
| ENST00000566682.2:c.338-6C>T | ENSP00000461979.2:n.338-6C>T | |
| ENST00000642226.1:n.953C>T | ||
| ENST00000642263.1:n.76-6C>T | ||
| ENST00000642334.1:c.2534-6C>T | ||
| ENST00000642427.1:n.725-6C>T | ||
| ENST00000642814.1:n.740-6C>T | ||
| ENST00000642984.1:n.915C>T | ||
| ENST00000643105.1:c.1245-6C>T | ||
| ENST00000643345.1:c.*849-6C>T | ENSP00000493982.1:n.*849-6C>T | |
| ENST00000643350.1:n.173-6C>T | ||
| ENST00000643370.1:c.499-6C>T | ENSP00000494895.1:n.499-6C>T | |
| ENST00000643409.1:n.958C>T | ||
| ENST00000643496.1:n.1142-6C>T | ||
| ENST00000643649.1:c.1325-6C>T | ENSP00000494806.1:n.1325-6C>T | |
| ENST00000643668.1:c.*1619-6C>T | ENSP00000494903.1:n.*1619-6C>T | |
| ENST00000643724.1:c.*498-2016C>T | ENSP00000496335.1:n.*498-2016C>T | |
| ENST00000643734.1:n.4238-6C>T | ||
| ENST00000643954.1:c.2224-6C>T | ||
| ENST00000644044.1:c.419-6C>T | ||
| ENST00000644061.1:n.283-6C>T | ||
| ENST00000644171.1:n.1299-6C>T | ||
| ENST00000644210.1:c.1325-6C>T | ENSP00000495675.1:n.1325-6C>T | |
| ENST00000644225.1:n.1342-6C>T | ||
| ENST00000644498.1:c.*1144-6C>T | ENSP00000496244.1:n.*1144-6C>T | |
| ENST00000644556.1:n.260+3370C>T | ||
| ENST00000644671.1:c.982-6C>T | ||
| ENST00000644748.1:n.2756-6C>T | ||
| ENST00000644751.1:c.727-6C>T | ||
| ENST00000644781.1:c.1325-6C>T | ENSP00000495473.1:n.1325-6C>T | |
| ENST00000644901.1:c.*1719-6C>T | ENSP00000493797.1:n.*1719-6C>T | |
| ENST00000644930.1:n.1659C>T | ||
| ENST00000645042.1:c.1325-6C>T | ENSP00000493908.1:n.1325-6C>T | |
| ENST00000645063.1:c.1325-6C>T | ENSP00000493590.1:n.1325-6C>T | |
| ENST00000645258.1:c.659-6C>T | ||
| ENST00000645354.1:c.2085-6C>T | ||
| ENST00000645392.1:n.1660C>T | ||
| ENST00000645818.2:c.1325-6C>T MANE Select | ENSP00000495795.2:n.1325-6C>T | |
| ENST00000645842.1:n.961-6C>T | ||
| ENST00000645886.1:c.830-6C>T | ||
| ENST00000645897.1:c.988-2016C>T | ENSP00000495293.1:n.988-2016C>T | |
| ENST00000645944.1:n.783C>T | ||
| ENST00000645952.1:n.874C>T | ||
| ENST00000645977.1:n.2443-6C>T | ||
| ENST00000646005.1:n.953C>T | ||
| ENST00000646263.1:c.*39-6C>T | ENSP00000494119.1:n.*39-6C>T | |
| ENST00000646303.1:c.1193-6C>T | ENSP00000494160.1:n.1193-6C>T | |
| ENST00000646399.1:c.2219-6C>T | ||
| ENST00000646445.1:c.183-6C>T | ||
| ENST00000646454.1:n.711-2016C>T | ||
| ENST00000646531.1:c.1325-6C>T | ENSP00000495185.1:n.1325-6C>T | |
| ENST00000646543.1:n.664C>T | ||
| ENST00000646589.1:c.*453-6C>T | ENSP00000494739.1:n.*453-6C>T | |
| ENST00000646716.1:c.377-6C>T | ENSP00000495593.1:n.377-6C>T | |
| ENST00000646826.1:c.1325-6C>T | ENSP00000495123.1:n.1325-6C>T | |
| ENST00000646930.1:c.*1095-6C>T | ENSP00000495219.1:n.*1095-6C>T | |
| ENST00000646958.1:n.2370-6C>T | ||
| ENST00000647032.1:c.940-6C>T | ||
| ENST00000647079.1:c.917-6C>T | ENSP00000495967.1:n.917-6C>T | |
| ENST00000647123.1:n.1067C>T | ||
| ENST00000647227.1:c.1088-2016C>T | ||
| ENST00000647302.1:n.1659C>T | ||
| ENST00000647491.1:n.904C>T | ||
| ENST00000268704.6:c.1325-6C>T | ENSP00000268704.2:n.1325-6C>T | |
| ENST00000561945.1:n.369-6C>T | ||
| ENST00000563218.5:n.51-6C>T | ||
| ENST00000620811.4:c.-252-6C>T | ENSP00000478030.1:n.-252-6C>T | |
| NM_003119.3:c.1325-6C>T | NP_003110.1:n.1325-6C>T | |
| XM_006721264.2:c.1325-6C>T | XP_006721327.1:n.1325-6C>T | |
| XM_011523306.1:c.1325-6C>T | XP_011521608.1:n.1325-6C>T | |
| NM_001363850.1:c.1325-6C>T | NP_001350779.1:n.1325-6C>T | |
| XM_006721264.4:c.1325-6C>T | XP_006721327.1:n.1325-6C>T | |
| XM_017023597.1:c.1325-6C>T | XP_016879086.1:n.1325-6C>T | |
| XM_017023598.1:c.1325-6C>T | XP_016879087.1:n.1325-6C>T | |
| XR_001751971.2:n.1364-6C>T | ||
| XR_001751972.2:n.1364-6C>T | ||
| NM_003119.4:c.1325-6C>T MANE Select | NP_003110.1:n.1325-6C>T |