Linked Data
ClinVar Variation Id:
216571
dbSNP Id:
rs752989523
ExAC:
16:89620261 G / C
gnomAD v2:
16-89620261-G-C
gnomAD v3:
16-89553853-G-C
gnomAD v4:
16-89553853-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553853G>C , CM000678.2:g.89553853G>C | GRCh38 |
| NC_000016.9:g.89620261G>C , CM000678.1:g.89620261G>C | GRCh37 |
| NC_000016.8:g.88147762G>C | NCBI36 |
| NG_008082.1:g.50457G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1975G>C | ENSP00000268704.3:p.Gly659Arg | |
| ENST00000561702.6:n.2668G>C | ||
| ENST00000566682.2:c.1037G>C | ENSP00000461979.2:p.Trp346Ser | |
| ENST00000569720.2:n.679G>C | ||
| ENST00000569820.6:c.2269G>C | ||
| ENST00000642226.1:n.2059G>C | ||
| ENST00000642334.1:c.3414G>C | ||
| ENST00000642814.1:n.1411G>C | ||
| ENST00000642984.1:n.1719G>C | ||
| ENST00000643105.1:c.2702G>C | ||
| ENST00000643350.1:n.1410G>C | ||
| ENST00000643409.1:n.2421G>C | ||
| ENST00000643496.1:n.1813G>C | ||
| ENST00000643649.1:c.1885G>C | ENSP00000494806.1:p.Gly629Arg | |
| ENST00000643668.1:c.*2290G>C | ENSP00000494903.1:n.*2290G>C | |
| ENST00000643724.1:c.*1044G>C | ENSP00000496335.1:n.*1044G>C | |
| ENST00000643954.1:c.2895G>C | ||
| ENST00000644171.1:n.2756G>C | ||
| ENST00000644210.1:c.*568G>C | ENSP00000495675.1:n.*568G>C | |
| ENST00000644225.1:n.2013G>C | ||
| ENST00000644281.1:n.2680G>C | ||
| ENST00000644464.1:n.649G>C | ||
| ENST00000644498.1:c.*1815G>C | ENSP00000496244.1:n.*1815G>C | |
| ENST00000644671.1:c.1653G>C | ||
| ENST00000644751.1:c.1184G>C | ||
| ENST00000644781.1:c.1951G>C | ENSP00000495473.1:p.Gly651Arg | |
| ENST00000644901.1:c.*2390G>C | ENSP00000493797.1:n.*2390G>C | |
| ENST00000645042.1:c.*770G>C | ENSP00000493908.1:n.*770G>C | |
| ENST00000645063.1:c.1996G>C | ENSP00000493590.1:p.Gly666Arg | |
| ENST00000645354.1:c.2756G>C | ||
| ENST00000645392.1:n.2337G>C | ||
| ENST00000645742.1:n.630G>C | ||
| ENST00000645818.2:c.1996G>C MANE Select | ENSP00000495795.2:p.Gly666Arg | |
| ENST00000645842.1:n.1841G>C | ||
| ENST00000645886.1:c.1501G>C | ||
| ENST00000645897.1:c.1534G>C | ENSP00000495293.1:p.Gly512Arg | |
| ENST00000645952.1:n.1861G>C | ||
| ENST00000645977.1:n.3114G>C | ||
| ENST00000646005.1:n.1754G>C | ||
| ENST00000646263.1:c.*869G>C | ENSP00000494119.1:n.*869G>C | |
| ENST00000646303.1:c.1864G>C | ENSP00000494160.1:p.Gly622Arg | |
| ENST00000646399.1:c.2890G>C | ||
| ENST00000646445.1:c.854G>C | ||
| ENST00000646531.1:c.*619G>C | ENSP00000495185.1:n.*619G>C | |
| ENST00000646589.1:c.*1124G>C | ENSP00000494739.1:n.*1124G>C | |
| ENST00000646716.1:c.1048G>C | ENSP00000495593.1:p.Gly350Arg | |
| ENST00000646826.1:c.*669G>C | ENSP00000495123.1:n.*669G>C | |
| ENST00000646930.1:c.*1925G>C | ENSP00000495219.1:n.*1925G>C | |
| ENST00000647032.1:c.1611G>C | ||
| ENST00000647079.1:c.1588G>C | ENSP00000495967.1:p.Gly530Arg | |
| ENST00000647123.1:n.1953G>C | ||
| ENST00000647227.1:c.1634G>C | ||
| ENST00000647302.1:n.2646G>C | ||
| ENST00000647476.1:n.883G>C | ||
| ENST00000647491.1:n.1740G>C | ||
| ENST00000268704.6:c.1996G>C | ENSP00000268704.2:p.Gly666Arg | |
| ENST00000561702.5:n.981G>C | ||
| ENST00000561911.5:c.596G>C | ENSP00000457387.1:p.Trp199Ser | |
| ENST00000566682.1:c.132G>C | ||
| ENST00000569720.1:n.187G>C | ||
| ENST00000569820.5:c.1238G>C | ||
| ENST00000620811.4:c.*42G>C | ENSP00000478030.1:n.*42G>C | |
| NM_003119.3:c.1996G>C | NP_003110.1:p.Gly666Arg | |
| XM_006721264.2:c.1996G>C | XP_006721327.1:p.Gly666Arg | |
| NM_001363850.1:c.1996G>C | NP_001350779.1:p.Gly666Arg | |
| XM_006721264.4:c.1996G>C | XP_006721327.1:p.Gly666Arg | |
| XR_001751971.2:n.2345G>C | ||
| XR_001751972.2:n.3632G>C | ||
| NM_003119.4:c.1996G>C MANE Select | NP_003110.1:p.Gly666Arg |