Linked Data
ClinVar Variation Id:
1385
dbSNP Id:
rs267607116
gnomAD v4:
8-93808861-G-C
PubMed:
PMID:19508969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808861G>C , CM000670.2:g.93808861G>C | GRCh38 |
| NC_000008.10:g.94821089G>C , CM000670.1:g.94821089G>C | GRCh37 |
| NC_000008.9:g.94890265G>C | NCBI36 |
| NG_009190.1:g.59018G>C , LRG_688:g.59018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2461G>C | ENSP00000314488.4:p.Gly821Arg | |
| ENST00000409623.8:c.2416G>C | ENSP00000386966.4:p.Gly806Arg | |
| ENST00000452276.6:c.2344G>C | ENSP00000388671.2:p.Gly782Arg | |
| ENST00000453906.6:c.1579G>C | ENSP00000403035.2:p.Gly527Arg | |
| ENST00000518896.2:c.752G>C | ENSP00000507992.1:n.752G>C | |
| ENST00000520680.2:c.2584G>C | ENSP00000428785.2:p.Gly862Arg | |
| ENST00000521517.6:c.2362G>C | ENSP00000430740.2:p.Gly788Arg | |
| ENST00000681998.1:c.2282G>C | ENSP00000506773.1:n.2282G>C | |
| ENST00000682036.1:c.1702G>C | ENSP00000508390.1:p.Gly568Arg | |
| ENST00000682577.1:c.2234G>C | ENSP00000506963.1:n.2234G>C | |
| ENST00000682624.1:c.*2035G>C | ENSP00000508343.1:n.*2035G>C | |
| ENST00000682700.1:c.2461G>C | ENSP00000507627.1:p.Gly821Arg | |
| ENST00000682744.1:n.1999G>C | ||
| ENST00000682804.1:n.2284G>C | ||
| ENST00000682837.1:c.1950G>C | ENSP00000507920.1:n.1950G>C | |
| ENST00000682935.1:n.4511G>C | ||
| ENST00000682984.1:c.2122G>C | ENSP00000507209.1:p.Gly708Arg | |
| ENST00000683078.1:c.2216G>C | ENSP00000506796.1:n.2216G>C | |
| ENST00000683223.1:c.2193G>C | ENSP00000507685.1:n.2193G>C | |
| ENST00000683238.1:n.3685G>C | ||
| ENST00000683249.1:n.4058G>C | ||
| ENST00000683336.1:c.2282G>C | ENSP00000507695.1:n.2282G>C | |
| ENST00000683362.1:c.2122G>C | ENSP00000506985.1:p.Gly708Arg | |
| ENST00000683850.1:n.2384G>C | ||
| ENST00000683919.1:c.2391G>C | ENSP00000507617.1:n.2391G>C | |
| ENST00000683953.1:c.2372G>C | ENSP00000508375.1:n.2372G>C | |
| ENST00000684023.1:c.2438G>C | ENSP00000507461.1:n.2438G>C | |
| ENST00000684064.1:c.2152G>C | ENSP00000508192.1:p.Gly718Arg | |
| ENST00000684089.1:n.4011G>C | ||
| ENST00000684149.1:c.*1640G>C | ENSP00000507943.1:n.*1640G>C | |
| ENST00000684343.1:c.658G>C | ENSP00000507591.1:p.Gly220Arg | |
| ENST00000684416.1:n.2420G>C | ||
| ENST00000684540.1:c.2391G>C | ENSP00000507987.1:n.2391G>C | |
| ENST00000453321.8:c.2461G>C MANE Select | ENSP00000389998.3:p.Gly821Arg | |
| ENST00000323130.7:c.2431G>C | ENSP00000314488.3:p.Gly811Arg | |
| ENST00000409623.7:c.2218G>C | ENSP00000386966.3:p.Gly740Arg | |
| ENST00000453321.7:c.2461G>C | ENSP00000389998.3:p.Gly821Arg | |
| ENST00000474944.5:n.1599G>C | ||
| ENST00000519845.5:n.1193G>C | ||
| NM_001142301.1:c.2218G>C , LRG_688t2:c.2218G>C | NP_001135773.1:p.Gly740Arg | |
| NM_153704.5:c.2461G>C , LRG_688t1:c.2461G>C | NP_714915.3:p.Gly821Arg | |
| NR_024522.1:n.2532G>C | ||
| XM_006716686.2:c.2158G>C | XP_006716749.1:p.Gly720Arg | |
| XM_006716687.2:c.1861G>C | XP_006716750.1:p.Gly621Arg | |
| XM_011517363.1:c.1579G>C | XP_011515665.1:p.Gly527Arg | |
| XR_428387.1:n.2519G>C | ||
| XR_928360.1:n.2519G>C | ||
| XR_928361.1:n.2519G>C | ||
| XR_928362.1:n.2519G>C | ||
| XM_006716686.4:c.2158G>C | XP_006716749.1:p.Gly720Arg | |
| XM_011517363.3:c.1579G>C | XP_011515665.1:p.Gly527Arg | |
| XM_024447326.1:c.1807G>C | XP_024303094.1:p.Gly603Arg | |
| XR_001745619.2:n.2502G>C | ||
| XR_428387.2:n.2502G>C | ||
| XR_928360.3:n.2502G>C | ||
| XR_928362.3:n.2502G>C | ||
| NM_153704.6:c.2461G>C MANE Select | NP_714915.3:p.Gly821Arg | |
| NR_024522.2:n.2482G>C |