Linked Data
ClinVar Variation Id:
586670
ClinVar RCV Id:
RCV000713482
dbSNP Id:
rs369503365
gnomAD v4:
16-89553871-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89553871G>C , CM000678.2:g.89553871G>C | GRCh38 |
| NC_000016.9:g.89620279G>C , CM000678.1:g.89620279G>C | GRCh37 |
| NC_000016.8:g.88147780G>C | NCBI36 |
| NG_008082.1:g.50475G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1993G>C | ENSP00000268704.3:p.Gly665Arg | |
| ENST00000561702.6:n.2686G>C | ||
| ENST00000566682.2:c.1055G>C | ENSP00000461979.2:p.Arg352Pro | |
| ENST00000569720.2:n.697G>C | ||
| ENST00000569820.6:c.2287G>C | ||
| ENST00000642226.1:n.2077G>C | ||
| ENST00000642334.1:c.3432G>C | ||
| ENST00000642814.1:n.1429G>C | ||
| ENST00000642984.1:n.1737G>C | ||
| ENST00000643105.1:c.2720G>C | ||
| ENST00000643350.1:n.1428G>C | ||
| ENST00000643409.1:n.2439G>C | ||
| ENST00000643496.1:n.1831G>C | ||
| ENST00000643649.1:c.1903G>C | ENSP00000494806.1:p.Gly635Arg | |
| ENST00000643668.1:c.*2308G>C | ENSP00000494903.1:n.*2308G>C | |
| ENST00000643724.1:c.*1062G>C | ENSP00000496335.1:n.*1062G>C | |
| ENST00000643954.1:c.2913G>C | ||
| ENST00000644171.1:n.2774G>C | ||
| ENST00000644210.1:c.*586G>C | ENSP00000495675.1:n.*586G>C | |
| ENST00000644225.1:n.2031G>C | ||
| ENST00000644281.1:n.2698G>C | ||
| ENST00000644464.1:n.667G>C | ||
| ENST00000644498.1:c.*1833G>C | ENSP00000496244.1:n.*1833G>C | |
| ENST00000644671.1:c.1671G>C | ||
| ENST00000644751.1:c.1202G>C | ||
| ENST00000644781.1:c.1969G>C | ENSP00000495473.1:p.Gly657Arg | |
| ENST00000644901.1:c.*2408G>C | ENSP00000493797.1:n.*2408G>C | |
| ENST00000645042.1:c.*788G>C | ENSP00000493908.1:n.*788G>C | |
| ENST00000645063.1:c.2014G>C | ENSP00000493590.1:p.Gly672Arg | |
| ENST00000645354.1:c.2774G>C | ||
| ENST00000645392.1:n.2355G>C | ||
| ENST00000645742.1:n.648G>C | ||
| ENST00000645818.2:c.2014G>C MANE Select | ENSP00000495795.2:p.Gly672Arg | |
| ENST00000645842.1:n.1859G>C | ||
| ENST00000645886.1:c.1519G>C | ||
| ENST00000645897.1:c.1552G>C | ENSP00000495293.1:p.Gly518Arg | |
| ENST00000645952.1:n.1879G>C | ||
| ENST00000645977.1:n.3132G>C | ||
| ENST00000646005.1:n.1772G>C | ||
| ENST00000646263.1:c.*887G>C | ENSP00000494119.1:n.*887G>C | |
| ENST00000646303.1:c.1882G>C | ENSP00000494160.1:p.Gly628Arg | |
| ENST00000646399.1:c.2908G>C | ||
| ENST00000646445.1:c.872G>C | ||
| ENST00000646531.1:c.*637G>C | ENSP00000495185.1:n.*637G>C | |
| ENST00000646589.1:c.*1142G>C | ENSP00000494739.1:n.*1142G>C | |
| ENST00000646716.1:c.1066G>C | ENSP00000495593.1:p.Gly356Arg | |
| ENST00000646826.1:c.*687G>C | ENSP00000495123.1:n.*687G>C | |
| ENST00000646930.1:c.*1943G>C | ENSP00000495219.1:n.*1943G>C | |
| ENST00000647032.1:c.1629G>C | ||
| ENST00000647079.1:c.1606G>C | ENSP00000495967.1:p.Gly536Arg | |
| ENST00000647123.1:n.1971G>C | ||
| ENST00000647227.1:c.1652G>C | ||
| ENST00000647302.1:n.2664G>C | ||
| ENST00000647476.1:n.901G>C | ||
| ENST00000647491.1:n.1758G>C | ||
| ENST00000268704.6:c.2014G>C | ENSP00000268704.2:p.Gly672Arg | |
| ENST00000561702.5:n.999G>C | ||
| ENST00000561911.5:c.614G>C | ENSP00000457387.1:p.Arg205Pro | |
| ENST00000566682.1:c.150G>C | ||
| ENST00000569720.1:n.205G>C | ||
| ENST00000569820.5:c.1256G>C | ||
| ENST00000620811.4:c.*60G>C | ENSP00000478030.1:n.*60G>C | |
| NM_003119.3:c.2014G>C | NP_003110.1:p.Gly672Arg | |
| XM_006721264.2:c.2014G>C | XP_006721327.1:p.Gly672Arg | |
| NM_001363850.1:c.2014G>C | NP_001350779.1:p.Gly672Arg | |
| XM_006721264.4:c.2014G>C | XP_006721327.1:p.Gly672Arg | |
| XR_001751971.2:n.2363G>C | ||
| XR_001751972.2:n.3650G>C | ||
| NM_003119.4:c.2014G>C MANE Select | NP_003110.1:p.Gly672Arg |