Linked Data
dbSNP Id:
rs1189787304
gnomAD v2:
16-89620898-C-T
gnomAD v3:
16-89554490-C-T
gnomAD v4:
16-89554490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89554490C>T , CM000678.2:g.89554490C>T | GRCh38 |
| NC_000016.9:g.89620898C>T , CM000678.1:g.89620898C>T | GRCh37 |
| NC_000016.8:g.88148399C>T | NCBI36 |
| NG_008082.1:g.51094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2087C>T | ENSP00000268704.3:p.Ala696Val | |
| ENST00000561702.6:n.2780C>T | ||
| ENST00000565891.2:c.5C>T | ENSP00000495004.1:p.Ala2Val | |
| ENST00000566682.2:c.1149C>T | ENSP00000461979.2:n.1149C>T | |
| ENST00000569720.2:n.791C>T | ||
| ENST00000569820.6:c.2381C>T | ||
| ENST00000642226.1:n.2171C>T | ||
| ENST00000642334.1:c.3526C>T | ||
| ENST00000642814.1:n.1523C>T | ||
| ENST00000642984.1:n.1831C>T | ||
| ENST00000643105.1:c.2814C>T | ||
| ENST00000643350.1:n.1522C>T | ||
| ENST00000643409.1:n.2533C>T | ||
| ENST00000643496.1:n.1925C>T | ||
| ENST00000643649.1:c.1997C>T | ENSP00000494806.1:p.Ala666Val | |
| ENST00000643668.1:c.*2402C>T | ENSP00000494903.1:n.*2402C>T | |
| ENST00000643724.1:c.*1156C>T | ENSP00000496335.1:n.*1156C>T | |
| ENST00000643954.1:c.3007C>T | ||
| ENST00000644171.1:n.2868C>T | ||
| ENST00000644210.1:c.*680C>T | ENSP00000495675.1:n.*680C>T | |
| ENST00000644225.1:n.2125C>T | ||
| ENST00000644281.1:n.2792C>T | ||
| ENST00000644464.1:n.761C>T | ||
| ENST00000644498.1:c.*1927C>T | ENSP00000496244.1:n.*1927C>T | |
| ENST00000644671.1:c.1765C>T | ||
| ENST00000644751.1:c.1296C>T | ||
| ENST00000644781.1:c.2063C>T | ENSP00000495473.1:p.Ala688Val | |
| ENST00000644901.1:c.*2502C>T | ENSP00000493797.1:n.*2502C>T | |
| ENST00000645042.1:c.*882C>T | ENSP00000493908.1:n.*882C>T | |
| ENST00000645063.1:c.2108C>T | ENSP00000493590.1:p.Ala703Val | |
| ENST00000645354.1:c.2868C>T | ||
| ENST00000645392.1:n.2449C>T | ||
| ENST00000645742.1:n.742C>T | ||
| ENST00000645818.2:c.2108C>T MANE Select | ENSP00000495795.2:p.Ala703Val | |
| ENST00000645842.1:n.1953C>T | ||
| ENST00000645886.1:c.1613C>T | ||
| ENST00000645897.1:c.1646C>T | ENSP00000495293.1:p.Ala549Val | |
| ENST00000645952.1:n.1973C>T | ||
| ENST00000645977.1:n.3226C>T | ||
| ENST00000646005.1:n.1866C>T | ||
| ENST00000646263.1:c.*981C>T | ENSP00000494119.1:n.*981C>T | |
| ENST00000646303.1:c.1976C>T | ENSP00000494160.1:p.Ala659Val | |
| ENST00000646399.1:c.3002C>T | ||
| ENST00000646445.1:c.966C>T | ||
| ENST00000646531.1:c.*731C>T | ENSP00000495185.1:n.*731C>T | |
| ENST00000646589.1:c.*1236C>T | ENSP00000494739.1:n.*1236C>T | |
| ENST00000646716.1:c.1160C>T | ENSP00000495593.1:p.Ala387Val | |
| ENST00000646826.1:c.*781C>T | ENSP00000495123.1:n.*781C>T | |
| ENST00000646930.1:c.*2037C>T | ENSP00000495219.1:n.*2037C>T | |
| ENST00000647032.1:c.1739C>T | ||
| ENST00000647079.1:c.1700C>T | ENSP00000495967.1:p.Ala567Val | |
| ENST00000647123.1:n.2065C>T | ||
| ENST00000647227.1:c.1746C>T | ||
| ENST00000647302.1:n.2758C>T | ||
| ENST00000647476.1:n.995C>T | ||
| ENST00000647491.1:n.1852C>T | ||
| ENST00000268704.6:c.2108C>T | ENSP00000268704.2:p.Ala703Val | |
| ENST00000561702.5:n.1093C>T | ||
| ENST00000561911.5:c.708C>T | ENSP00000457387.1:n.708C>T | |
| ENST00000566682.1:c.244C>T | ||
| ENST00000569720.1:n.299C>T | ||
| ENST00000569820.5:c.1350C>T | ||
| ENST00000620811.4:c.*154C>T | ENSP00000478030.1:n.*154C>T | |
| NM_003119.3:c.2108C>T | NP_003110.1:p.Ala703Val | |
| XM_006721264.2:c.2108C>T | XP_006721327.1:p.Ala703Val | |
| NM_001363850.1:c.2108C>T | NP_001350779.1:p.Ala703Val | |
| XM_006721264.4:c.2108C>T | XP_006721327.1:p.Ala703Val | |
| XR_001751971.2:n.2457C>T | ||
| XR_001751972.2:n.3744C>T | ||
| NM_003119.4:c.2108C>T MANE Select | NP_003110.1:p.Ala703Val |