Linked Data
ClinVar Variation Id:
464711
dbSNP Id:
rs761763725
ExAC:
1:45799107 C / G
gnomAD v2:
1-45799107-C-G
gnomAD v3:
1-45333435-C-G
gnomAD v4:
1-45333435-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45333435C>G , CM000663.2:g.45333435C>G | GRCh38 |
| NC_000001.10:g.45799107C>G , CM000663.1:g.45799107C>G | GRCh37 |
| NC_000001.9:g.45571694C>G | NCBI36 |
| NG_008189.1:g.12036G>C , LRG_220:g.12036G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.37-601G>C | ENSP00000410263.2:n.37-601G>C | |
| ENST00000435155.2:c.275G>C | ENSP00000403655.2:p.Arg92Pro | |
| ENST00000467459.6:c.242G>C | ENSP00000435889.2:p.Arg81Pro | |
| ENST00000483127.2:c.260G>C | ENSP00000436469.2:p.Arg87Pro | |
| ENST00000485271.6:c.242G>C | ENSP00000431264.2:p.Arg81Pro | |
| ENST00000529892.6:c.284G>C | ENSP00000432528.2:p.Arg95Pro | |
| ENST00000533178.6:c.116-748G>C | ENSP00000436430.2:n.116-748G>C | |
| ENST00000672314.2:c.242G>C | ENSP00000500828.2:p.Arg81Pro | |
| ENST00000674679.2:c.*154G>C | ENSP00000501623.2:n.*154G>C | |
| ENST00000710952.2:c.326G>C MANE Plus Clinical | ENSP00000518552.2:p.Arg109Pro | |
| ENST00000672818.3:c.317G>C | ENSP00000500891.1:p.Arg106Pro | |
| ENST00000450313.6:c.326G>C | ENSP00000408176.2:p.Arg109Pro | |
| ENST00000456914.7:c.242G>C MANE Select | ENSP00000407590.2:p.Arg81Pro | |
| ENST00000461495.6:c.*55G>C | ENSP00000437166.1:n.*55G>C | |
| ENST00000671856.1:n.262G>C | ||
| ENST00000671898.1:c.830G>C | ENSP00000499896.1:p.Arg277Pro | |
| ENST00000672011.1:c.284G>C | ENSP00000500418.1:p.Arg95Pro | |
| ENST00000672314.1:c.242G>C | ENSP00000500828.1:p.Arg81Pro | |
| ENST00000672593.1:c.*55G>C | ENSP00000500455.1:n.*55G>C | |
| ENST00000672764.1:c.275G>C | ENSP00000500886.1:p.Arg92Pro | |
| ENST00000672818.2:c.317G>C | ENSP00000500891.1:p.Arg106Pro | |
| ENST00000673134.1:c.*55G>C | ENSP00000500526.1:n.*55G>C | |
| ENST00000674679.1:c.270G>C | ENSP00000501623.1:n.270G>C | |
| ENST00000354383.10:c.245G>C | ENSP00000346354.6:p.Arg82Pro | |
| ENST00000355498.6:c.242G>C | ENSP00000347685.2:p.Arg81Pro | |
| ENST00000372098.7:c.317G>C | ENSP00000361170.3:p.Arg106Pro | |
| ENST00000372104.5:c.242G>C | ENSP00000361176.1:p.Arg81Pro | |
| ENST00000372110.7:c.287G>C | ENSP00000361182.3:p.Arg96Pro | |
| ENST00000372115.7:c.284G>C | ENSP00000361187.3:p.Arg95Pro | |
| ENST00000412971.5:c.37-601G>C | ENSP00000410263.1:n.37-601G>C | |
| ENST00000435155.1:c.275G>C | ENSP00000403655.1:p.Arg92Pro | |
| ENST00000448481.5:c.275G>C | ENSP00000409718.1:p.Arg92Pro | |
| ENST00000450313.5:c.326G>C | ENSP00000408176.1:p.Arg109Pro | |
| ENST00000456914.6:c.242G>C | ENSP00000407590.2:p.Arg81Pro | |
| ENST00000461495.5:c.*55G>C | ENSP00000437166.1:n.*55G>C | |
| ENST00000462387.5:n.336-111G>C | ||
| ENST00000467940.5:c.*165G>C | ENSP00000436478.1:n.*165G>C | |
| ENST00000470256.5:c.245G>C | ENSP00000434985.1:p.Arg82Pro | |
| ENST00000474703.1:n.397G>C | ||
| ENST00000475516.5:c.*55G>C | ENSP00000433843.1:n.*55G>C | |
| ENST00000476789.5:n.462G>C | ||
| ENST00000479746.6:n.305G>C | ||
| ENST00000481139.5:n.381G>C | ||
| ENST00000481571.5:c.*55G>C | ENSP00000436597.1:n.*55G>C | |
| ENST00000483127.1:c.260G>C | ENSP00000436469.1:p.Arg87Pro | |
| ENST00000483642.5:n.423G>C | ||
| ENST00000485484.5:n.292G>C | ||
| ENST00000488731.6:c.116-601G>C | ENSP00000432330.1:n.116-601G>C | |
| ENST00000492494.5:n.305G>C | ||
| ENST00000525160.5:c.158-111G>C | ENSP00000431568.1:n.158-111G>C | |
| ENST00000528013.6:c.284G>C | ENSP00000433130.2:p.Arg95Pro | |
| ENST00000529984.5:c.116-601G>C | ENSP00000437093.1:n.116-601G>C | |
| ENST00000531105.5:c.115+956G>C | ENSP00000431292.1:n.115+956G>C | |
| ENST00000533178.5:c.122-748G>C | ENSP00000436430.1:n.122-748G>C | |
| NM_001048171.1:c.284G>C | NP_001041636.1:p.Arg95Pro | |
| NM_001048172.1:c.245G>C | NP_001041637.1:p.Arg82Pro | |
| NM_001048173.1:c.242G>C | NP_001041638.1:p.Arg81Pro | |
| NM_001048174.1:c.242G>C | NP_001041639.1:p.Arg81Pro | |
| NM_001128425.1:c.326G>C , LRG_220t1:c.326G>C | NP_001121897.1:p.Arg109Pro | |
| NM_001293190.1:c.287G>C | NP_001280119.1:p.Arg96Pro | |
| NM_001293191.1:c.275G>C | NP_001280120.1:p.Arg92Pro | |
| NM_001293192.1:c.-35G>C | NP_001280121.1:n.-35G>C | |
| NM_001293195.1:c.242G>C | NP_001280124.1:p.Arg81Pro | |
| NM_001293196.1:c.-35G>C | NP_001280125.1:n.-35G>C | |
| NM_012222.2:c.317G>C | NP_036354.1:p.Arg106Pro | |
| XM_011541497.1:c.302G>C | XP_011539799.1:p.Arg101Pro | |
| XM_011541498.1:c.284G>C | XP_011539800.1:p.Arg95Pro | |
| XM_011541499.1:c.284G>C | XP_011539801.1:p.Arg95Pro | |
| XM_011541500.1:c.284G>C | XP_011539802.1:p.Arg95Pro | |
| XM_011541501.1:c.284G>C | XP_011539803.1:p.Arg95Pro | |
| XM_011541502.1:c.284G>C | XP_011539804.1:p.Arg95Pro | |
| XM_011541503.1:c.326G>C | XP_011539805.1:p.Arg109Pro | |
| XM_011541504.1:c.275G>C | XP_011539806.1:p.Arg92Pro | |
| XM_011541505.1:c.43-601G>C | XP_011539807.1:n.43-601G>C | |
| XM_011541506.1:c.43-601G>C | XP_011539808.1:n.43-601G>C | |
| XR_946658.1:n.373G>C | ||
| NM_001350650.1:c.-30G>C | NP_001337579.1:n.-30G>C | |
| NM_001350651.1:c.-30G>C | NP_001337580.1:n.-30G>C | |
| NR_146882.1:n.500G>C | ||
| NR_146883.1:n.388G>C | ||
| XM_011541497.3:c.302G>C | XP_011539799.1:p.Arg101Pro | |
| XM_011541500.3:c.284G>C | XP_011539802.1:p.Arg95Pro | |
| XM_011541501.2:c.284G>C | XP_011539803.1:p.Arg95Pro | |
| XM_011541502.2:c.284G>C | XP_011539804.1:p.Arg95Pro | |
| XM_011541503.2:c.326G>C | XP_011539805.1:p.Arg109Pro | |
| XM_011541504.2:c.275G>C | XP_011539806.1:p.Arg92Pro | |
| XM_011541505.2:c.43-601G>C | XP_011539807.1:n.43-601G>C | |
| XM_011541506.2:c.43-601G>C | XP_011539808.1:n.43-601G>C | |
| XM_017001331.1:c.284G>C | XP_016856820.1:p.Arg95Pro | |
| XM_017001332.1:c.284G>C | XP_016856821.1:p.Arg95Pro | |
| XM_017001333.1:c.284G>C | XP_016856822.1:p.Arg95Pro | |
| XM_017001334.1:c.245G>C | XP_016856823.1:p.Arg82Pro | |
| XM_017001335.1:c.-35G>C | XP_016856824.1:n.-35G>C | |
| XM_017001336.1:c.-30G>C | XP_016856825.1:n.-30G>C | |
| XM_017001337.1:c.-30G>C | XP_016856826.1:n.-30G>C | |
| XM_024447244.1:c.-30G>C | XP_024303012.1:n.-30G>C | |
| XM_024447245.1:c.-30G>C | XP_024303013.1:n.-30G>C | |
| XM_024447248.1:c.-30G>C | XP_024303016.1:n.-30G>C | |
| XM_024447249.1:c.-526G>C | XP_024303017.1:n.-526G>C | |
| XM_024447250.1:c.-526G>C | XP_024303018.1:n.-526G>C | |
| XM_024447251.1:c.-284G>C | XP_024303019.1:n.-284G>C | |
| XR_001737190.1:n.287G>C | ||
| XR_001737192.1:n.215G>C | ||
| XR_002956643.1:n.395G>C | ||
| XR_002956644.1:n.480G>C | ||
| XR_946658.2:n.387G>C | ||
| NM_001048171.2:c.242G>C | NP_001041636.2:p.Arg81Pro | |
| NM_001128425.2:c.326G>C MANE Plus Clinical | NP_001121897.1:p.Arg109Pro | |
| NM_001048172.2:c.245G>C | NP_001041637.1:p.Arg82Pro | |
| NM_001048173.2:c.242G>C | NP_001041638.1:p.Arg81Pro | |
| NM_001048174.2:c.242G>C MANE Select | NP_001041639.1:p.Arg81Pro | |
| NM_001293190.2:c.287G>C | NP_001280119.1:p.Arg96Pro | |
| NM_001293191.2:c.275G>C | NP_001280120.1:p.Arg92Pro | |
| NM_001293192.2:c.-35G>C | NP_001280121.1:n.-35G>C | |
| NM_001293195.2:c.242G>C | NP_001280124.1:p.Arg81Pro | |
| NM_001293196.2:c.-35G>C | NP_001280125.1:n.-35G>C | |
| NM_001350650.2:c.-30G>C | NP_001337579.1:n.-30G>C | |
| NM_001350651.2:c.-30G>C | NP_001337580.1:n.-30G>C | |
| NM_012222.3:c.317G>C | NP_036354.1:p.Arg106Pro | |
| NR_146882.2:n.470G>C | ||
| NR_146883.2:n.393G>C |