Linked Data
ClinVar Variation Id:
217723
dbSNP Id:
rs863225234
gnomAD v4:
8-93808922-A-C
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808922A>C , CM000670.2:g.93808922A>C | GRCh38 |
| NC_000008.10:g.94821150A>C , CM000670.1:g.94821150A>C | GRCh37 |
| NC_000008.9:g.94890326A>C | NCBI36 |
| NG_009190.1:g.59079A>C , LRG_688:g.59079A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2522A>C | ENSP00000314488.4:p.Gln841Pro | |
| ENST00000409623.8:c.2477A>C | ENSP00000386966.4:p.Gln826Pro | |
| ENST00000452276.6:c.2405A>C | ENSP00000388671.2:p.Gln802Pro | |
| ENST00000453906.6:c.1640A>C | ENSP00000403035.2:p.Gln547Pro | |
| ENST00000518896.2:c.813A>C | ENSP00000507992.1:n.813A>C | |
| ENST00000520680.2:c.2645A>C | ENSP00000428785.2:p.Gln882Pro | |
| ENST00000521517.6:c.2423A>C | ENSP00000430740.2:p.Gln808Pro | |
| ENST00000681998.1:c.2343A>C | ENSP00000506773.1:n.2343A>C | |
| ENST00000682036.1:c.1763A>C | ENSP00000508390.1:p.Gln588Pro | |
| ENST00000682577.1:c.2295A>C | ENSP00000506963.1:n.2295A>C | |
| ENST00000682624.1:c.*2096A>C | ENSP00000508343.1:n.*2096A>C | |
| ENST00000682700.1:c.2522A>C | ENSP00000507627.1:p.Gln841Pro | |
| ENST00000682744.1:n.2060A>C | ||
| ENST00000682804.1:n.2345A>C | ||
| ENST00000682837.1:c.2011A>C | ENSP00000507920.1:n.2011A>C | |
| ENST00000682935.1:n.4572A>C | ||
| ENST00000682984.1:c.2183A>C | ENSP00000507209.1:p.Gln728Pro | |
| ENST00000683078.1:c.2277A>C | ENSP00000506796.1:n.2277A>C | |
| ENST00000683223.1:c.2254A>C | ENSP00000507685.1:n.2254A>C | |
| ENST00000683238.1:n.3746A>C | ||
| ENST00000683249.1:n.4119A>C | ||
| ENST00000683336.1:c.2343A>C | ENSP00000507695.1:n.2343A>C | |
| ENST00000683362.1:c.2183A>C | ENSP00000506985.1:p.Gln728Pro | |
| ENST00000683850.1:n.2445A>C | ||
| ENST00000683919.1:c.2452A>C | ENSP00000507617.1:n.2452A>C | |
| ENST00000683953.1:c.2433A>C | ENSP00000508375.1:n.2433A>C | |
| ENST00000684023.1:c.2499A>C | ENSP00000507461.1:n.2499A>C | |
| ENST00000684064.1:c.2213A>C | ENSP00000508192.1:p.Gln738Pro | |
| ENST00000684089.1:n.4072A>C | ||
| ENST00000684149.1:c.*1701A>C | ENSP00000507943.1:n.*1701A>C | |
| ENST00000684343.1:c.719A>C | ENSP00000507591.1:p.Gln240Pro | |
| ENST00000684416.1:n.2481A>C | ||
| ENST00000684540.1:c.2452A>C | ENSP00000507987.1:n.2452A>C | |
| ENST00000453321.8:c.2522A>C MANE Select | ENSP00000389998.3:p.Gln841Pro | |
| ENST00000323130.7:c.2492A>C | ENSP00000314488.3:p.Gln831Pro | |
| ENST00000409623.7:c.2279A>C | ENSP00000386966.3:p.Gln760Pro | |
| ENST00000453321.7:c.2522A>C | ENSP00000389998.3:p.Gln841Pro | |
| ENST00000474944.5:n.1660A>C | ||
| ENST00000519845.5:n.1254A>C | ||
| NM_001142301.1:c.2279A>C , LRG_688t2:c.2279A>C | NP_001135773.1:p.Gln760Pro | |
| NM_153704.5:c.2522A>C , LRG_688t1:c.2522A>C | NP_714915.3:p.Gln841Pro | |
| NR_024522.1:n.2593A>C | ||
| XM_006716686.2:c.2219A>C | XP_006716749.1:p.Gln740Pro | |
| XM_006716687.2:c.1922A>C | XP_006716750.1:p.Gln641Pro | |
| XM_011517363.1:c.1640A>C | XP_011515665.1:p.Gln547Pro | |
| XR_428387.1:n.2580A>C | ||
| XR_928360.1:n.2580A>C | ||
| XR_928361.1:n.2580A>C | ||
| XR_928362.1:n.2580A>C | ||
| XM_006716686.4:c.2219A>C | XP_006716749.1:p.Gln740Pro | |
| XM_011517363.3:c.1640A>C | XP_011515665.1:p.Gln547Pro | |
| XM_024447326.1:c.1868A>C | XP_024303094.1:p.Gln623Pro | |
| XR_001745619.2:n.2563A>C | ||
| XR_428387.2:n.2563A>C | ||
| XR_928360.3:n.2563A>C | ||
| XR_928362.3:n.2563A>C | ||
| NM_153704.6:c.2522A>C MANE Select | NP_714915.3:p.Gln841Pro | |
| NR_024522.2:n.2543A>C |