Linked Data
ClinVar Variation Id:
321287
dbSNP Id:
rs754203248
ExAC:
16:89620348 C / G
gnomAD v2:
16-89620348-C-G
gnomAD v3:
16-89553940-C-G
gnomAD v4:
16-89553940-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553940C>G , CM000678.2:g.89553940C>G | GRCh38 |
| NC_000016.9:g.89620348C>G , CM000678.1:g.89620348C>G | GRCh37 |
| NC_000016.8:g.88147849C>G | NCBI36 |
| NG_008082.1:g.50544C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.2062C>G | ENSP00000268704.3:p.Leu688Val | |
| ENST00000561702.6:n.2755C>G | ||
| ENST00000566682.2:c.1124C>G | ENSP00000461979.2:n.1124C>G | |
| ENST00000569720.2:n.766C>G | ||
| ENST00000569820.6:c.2356C>G | ||
| ENST00000642226.1:n.2146C>G | ||
| ENST00000642334.1:c.3501C>G | ||
| ENST00000642814.1:n.1498C>G | ||
| ENST00000642984.1:n.1806C>G | ||
| ENST00000643105.1:c.2789C>G | ||
| ENST00000643350.1:n.1497C>G | ||
| ENST00000643409.1:n.2508C>G | ||
| ENST00000643496.1:n.1900C>G | ||
| ENST00000643649.1:c.1972C>G | ENSP00000494806.1:p.Leu658Val | |
| ENST00000643668.1:c.*2377C>G | ENSP00000494903.1:n.*2377C>G | |
| ENST00000643724.1:c.*1131C>G | ENSP00000496335.1:n.*1131C>G | |
| ENST00000643954.1:c.2982C>G | ||
| ENST00000644171.1:n.2843C>G | ||
| ENST00000644210.1:c.*655C>G | ENSP00000495675.1:n.*655C>G | |
| ENST00000644225.1:n.2100C>G | ||
| ENST00000644281.1:n.2767C>G | ||
| ENST00000644464.1:n.736C>G | ||
| ENST00000644498.1:c.*1902C>G | ENSP00000496244.1:n.*1902C>G | |
| ENST00000644671.1:c.1740C>G | ||
| ENST00000644751.1:c.1271C>G | ||
| ENST00000644781.1:c.2038C>G | ENSP00000495473.1:p.Leu680Val | |
| ENST00000644901.1:c.*2477C>G | ENSP00000493797.1:n.*2477C>G | |
| ENST00000645042.1:c.*857C>G | ENSP00000493908.1:n.*857C>G | |
| ENST00000645063.1:c.2083C>G | ENSP00000493590.1:p.Leu695Val | |
| ENST00000645354.1:c.2843C>G | ||
| ENST00000645392.1:n.2424C>G | ||
| ENST00000645742.1:n.717C>G | ||
| ENST00000645818.2:c.2083C>G MANE Select | ENSP00000495795.2:p.Leu695Val | |
| ENST00000645842.1:n.1928C>G | ||
| ENST00000645886.1:c.1588C>G | ||
| ENST00000645897.1:c.1621C>G | ENSP00000495293.1:p.Leu541Val | |
| ENST00000645952.1:n.1948C>G | ||
| ENST00000645977.1:n.3201C>G | ||
| ENST00000646005.1:n.1841C>G | ||
| ENST00000646263.1:c.*956C>G | ENSP00000494119.1:n.*956C>G | |
| ENST00000646303.1:c.1951C>G | ENSP00000494160.1:p.Leu651Val | |
| ENST00000646399.1:c.2977C>G | ||
| ENST00000646445.1:c.941C>G | ||
| ENST00000646531.1:c.*706C>G | ENSP00000495185.1:n.*706C>G | |
| ENST00000646589.1:c.*1211C>G | ENSP00000494739.1:n.*1211C>G | |
| ENST00000646716.1:c.1135C>G | ENSP00000495593.1:p.Leu379Val | |
| ENST00000646826.1:c.*756C>G | ENSP00000495123.1:n.*756C>G | |
| ENST00000646930.1:c.*2012C>G | ENSP00000495219.1:n.*2012C>G | |
| ENST00000647032.1:c.1698C>G | ||
| ENST00000647079.1:c.1675C>G | ENSP00000495967.1:p.Leu559Val | |
| ENST00000647123.1:n.2040C>G | ||
| ENST00000647227.1:c.1721C>G | ||
| ENST00000647302.1:n.2733C>G | ||
| ENST00000647476.1:n.970C>G | ||
| ENST00000647491.1:n.1827C>G | ||
| ENST00000268704.6:c.2083C>G | ENSP00000268704.2:p.Leu695Val | |
| ENST00000561702.5:n.1068C>G | ||
| ENST00000561911.5:c.683C>G | ENSP00000457387.1:n.683C>G | |
| ENST00000566682.1:c.219C>G | ||
| ENST00000569720.1:n.274C>G | ||
| ENST00000569820.5:c.1325C>G | ||
| ENST00000620811.4:c.*129C>G | ENSP00000478030.1:n.*129C>G | |
| NM_003119.3:c.2083C>G | NP_003110.1:p.Leu695Val | |
| XM_006721264.2:c.2083C>G | XP_006721327.1:p.Leu695Val | |
| NM_001363850.1:c.2083C>G | NP_001350779.1:p.Leu695Val | |
| XM_006721264.4:c.2083C>G | XP_006721327.1:p.Leu695Val | |
| XR_001751971.2:n.2432C>G | ||
| XR_001751972.2:n.3719C>G | ||
| NM_003119.4:c.2083C>G MANE Select | NP_003110.1:p.Leu695Val |