Linked Data
ClinVar Variation Id:
216088
ClinVar RCV Id:
RCV000196592
dbSNP Id:
rs748555510
gnomAD v2:
16-89611139-C-T
gnomAD v4:
16-89544731-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89544731C>T , CM000678.2:g.89544731C>T | GRCh38 |
| NC_000016.9:g.89611139C>T , CM000678.1:g.89611139C>T | GRCh37 |
| NC_000016.8:g.88138640C>T | NCBI36 |
| NG_008082.1:g.41335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1387C>T | ENSP00000268704.3:p.Arg463Ter | |
| ENST00000561945.2:n.553C>T | ||
| ENST00000566682.2:c.421C>T | ENSP00000461979.2:p.Arg141Ter | |
| ENST00000569820.6:c.84C>T | ||
| ENST00000642226.1:n.1042C>T | ||
| ENST00000642263.1:n.159C>T | ||
| ENST00000642334.1:c.2617C>T | ||
| ENST00000642427.1:n.808C>T | ||
| ENST00000642814.1:n.823C>T | ||
| ENST00000642984.1:n.1004C>T | ||
| ENST00000643105.1:c.1328C>T | ||
| ENST00000643345.1:c.*932C>T | ENSP00000493982.1:n.*932C>T | |
| ENST00000643350.1:n.256C>T | ||
| ENST00000643370.1:c.582C>T | ENSP00000494895.1:n.582C>T | |
| ENST00000643409.1:n.1047C>T | ||
| ENST00000643496.1:n.1225C>T | ||
| ENST00000643649.1:c.1408C>T | ENSP00000494806.1:p.Arg470Ter | |
| ENST00000643668.1:c.*1702C>T | ENSP00000494903.1:n.*1702C>T | |
| ENST00000643724.1:c.*498-1927C>T | ENSP00000496335.1:n.*498-1927C>T | |
| ENST00000643734.1:n.4321C>T | ||
| ENST00000643954.1:c.2307C>T | ||
| ENST00000644044.1:c.502C>T | ||
| ENST00000644061.1:n.366C>T | ||
| ENST00000644171.1:n.1382C>T | ||
| ENST00000644210.1:c.1408C>T | ENSP00000495675.1:p.Arg470Ter | |
| ENST00000644225.1:n.1425C>T | ||
| ENST00000644498.1:c.*1227C>T | ENSP00000496244.1:n.*1227C>T | |
| ENST00000644556.1:n.260+3459C>T | ||
| ENST00000644671.1:c.1065C>T | ||
| ENST00000644748.1:n.2839C>T | ||
| ENST00000644751.1:c.810C>T | ||
| ENST00000644781.1:c.1408C>T | ENSP00000495473.1:p.Arg470Ter | |
| ENST00000644901.1:c.*1802C>T | ENSP00000493797.1:n.*1802C>T | |
| ENST00000644930.1:n.1748C>T | ||
| ENST00000645042.1:c.1408C>T | ENSP00000493908.1:p.Arg470Ter | |
| ENST00000645063.1:c.1408C>T | ENSP00000493590.1:p.Arg470Ter | |
| ENST00000645258.1:c.742C>T | ||
| ENST00000645354.1:c.2168C>T | ||
| ENST00000645392.1:n.1749C>T | ||
| ENST00000645818.2:c.1408C>T MANE Select | ENSP00000495795.2:p.Arg470Ter | |
| ENST00000645842.1:n.1044C>T | ||
| ENST00000645886.1:c.913C>T | ||
| ENST00000645897.1:c.988-1927C>T | ENSP00000495293.1:n.988-1927C>T | |
| ENST00000645944.1:n.872C>T | ||
| ENST00000645952.1:n.963C>T | ||
| ENST00000645977.1:n.2526C>T | ||
| ENST00000646005.1:n.1042C>T | ||
| ENST00000646263.1:c.*122C>T | ENSP00000494119.1:n.*122C>T | |
| ENST00000646303.1:c.1276C>T | ENSP00000494160.1:p.Arg426Ter | |
| ENST00000646399.1:c.2302C>T | ||
| ENST00000646445.1:c.266C>T | ||
| ENST00000646454.1:n.711-1927C>T | ||
| ENST00000646531.1:c.1408C>T | ENSP00000495185.1:p.Arg470Ter | |
| ENST00000646543.1:n.753C>T | ||
| ENST00000646589.1:c.*536C>T | ENSP00000494739.1:n.*536C>T | |
| ENST00000646716.1:c.460C>T | ENSP00000495593.1:p.Arg154Ter | |
| ENST00000646826.1:c.1408C>T | ENSP00000495123.1:p.Arg470Ter | |
| ENST00000646930.1:c.*1178C>T | ENSP00000495219.1:n.*1178C>T | |
| ENST00000646958.1:n.2453C>T | ||
| ENST00000647032.1:c.1023C>T | ||
| ENST00000647079.1:c.1000C>T | ENSP00000495967.1:p.Arg334Ter | |
| ENST00000647123.1:n.1156C>T | ||
| ENST00000647227.1:c.1088-1927C>T | ||
| ENST00000647302.1:n.1748C>T | ||
| ENST00000647491.1:n.993C>T | ||
| ENST00000268704.6:c.1408C>T | ENSP00000268704.2:p.Arg470Ter | |
| ENST00000563218.5:n.134C>T | ||
| ENST00000566221.5:c.6C>T | ||
| ENST00000569820.5:c.84C>T | ||
| ENST00000620811.4:c.-169C>T | ENSP00000478030.1:n.-169C>T | |
| NM_003119.3:c.1408C>T | NP_003110.1:p.Arg470Ter | |
| XM_006721264.2:c.1408C>T | XP_006721327.1:p.Arg470Ter | |
| XM_011523306.1:c.1408C>T | XP_011521608.1:p.Arg470Ter | |
| NM_001363850.1:c.1408C>T | NP_001350779.1:p.Arg470Ter | |
| XM_006721264.4:c.1408C>T | XP_006721327.1:p.Arg470Ter | |
| XM_017023597.1:c.1408C>T | XP_016879086.1:p.Arg470Ter | |
| XM_017023598.1:c.1408C>T | XP_016879087.1:p.Arg470Ter | |
| XR_001751971.2:n.1447C>T | ||
| XR_001751972.2:n.1447C>T | ||
| NM_003119.4:c.1408C>T MANE Select | NP_003110.1:p.Arg470Ter |