Linked Data
ClinVar Variation Id:
1382
dbSNP Id:
rs267607116
gnomAD v4:
8-93808861-G-A
PubMed:
PMID:19508969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93808861G>A , CM000670.2:g.93808861G>A | GRCh38 |
| NC_000008.10:g.94821089G>A , CM000670.1:g.94821089G>A | GRCh37 |
| NC_000008.9:g.94890265G>A | NCBI36 |
| NG_009190.1:g.59018G>A , LRG_688:g.59018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2461G>A | ENSP00000314488.4:p.Gly821Ser | |
| ENST00000409623.8:c.2416G>A | ENSP00000386966.4:p.Gly806Ser | |
| ENST00000452276.6:c.2344G>A | ENSP00000388671.2:p.Gly782Ser | |
| ENST00000453906.6:c.1579G>A | ENSP00000403035.2:p.Gly527Ser | |
| ENST00000518896.2:c.752G>A | ENSP00000507992.1:n.752G>A | |
| ENST00000520680.2:c.2584G>A | ENSP00000428785.2:p.Gly862Ser | |
| ENST00000521517.6:c.2362G>A | ENSP00000430740.2:p.Gly788Ser | |
| ENST00000681998.1:c.2282G>A | ENSP00000506773.1:n.2282G>A | |
| ENST00000682036.1:c.1702G>A | ENSP00000508390.1:p.Gly568Ser | |
| ENST00000682577.1:c.2234G>A | ENSP00000506963.1:n.2234G>A | |
| ENST00000682624.1:c.*2035G>A | ENSP00000508343.1:n.*2035G>A | |
| ENST00000682700.1:c.2461G>A | ENSP00000507627.1:p.Gly821Ser | |
| ENST00000682744.1:n.1999G>A | ||
| ENST00000682804.1:n.2284G>A | ||
| ENST00000682837.1:c.1950G>A | ENSP00000507920.1:n.1950G>A | |
| ENST00000682935.1:n.4511G>A | ||
| ENST00000682984.1:c.2122G>A | ENSP00000507209.1:p.Gly708Ser | |
| ENST00000683078.1:c.2216G>A | ENSP00000506796.1:n.2216G>A | |
| ENST00000683223.1:c.2193G>A | ENSP00000507685.1:n.2193G>A | |
| ENST00000683238.1:n.3685G>A | ||
| ENST00000683249.1:n.4058G>A | ||
| ENST00000683336.1:c.2282G>A | ENSP00000507695.1:n.2282G>A | |
| ENST00000683362.1:c.2122G>A | ENSP00000506985.1:p.Gly708Ser | |
| ENST00000683850.1:n.2384G>A | ||
| ENST00000683919.1:c.2391G>A | ENSP00000507617.1:n.2391G>A | |
| ENST00000683953.1:c.2372G>A | ENSP00000508375.1:n.2372G>A | |
| ENST00000684023.1:c.2438G>A | ENSP00000507461.1:n.2438G>A | |
| ENST00000684064.1:c.2152G>A | ENSP00000508192.1:p.Gly718Ser | |
| ENST00000684089.1:n.4011G>A | ||
| ENST00000684149.1:c.*1640G>A | ENSP00000507943.1:n.*1640G>A | |
| ENST00000684343.1:c.658G>A | ENSP00000507591.1:p.Gly220Ser | |
| ENST00000684416.1:n.2420G>A | ||
| ENST00000684540.1:c.2391G>A | ENSP00000507987.1:n.2391G>A | |
| ENST00000453321.8:c.2461G>A MANE Select | ENSP00000389998.3:p.Gly821Ser | |
| ENST00000323130.7:c.2431G>A | ENSP00000314488.3:p.Gly811Ser | |
| ENST00000409623.7:c.2218G>A | ENSP00000386966.3:p.Gly740Ser | |
| ENST00000453321.7:c.2461G>A | ENSP00000389998.3:p.Gly821Ser | |
| ENST00000474944.5:n.1599G>A | ||
| ENST00000519845.5:n.1193G>A | ||
| NM_001142301.1:c.2218G>A , LRG_688t2:c.2218G>A | NP_001135773.1:p.Gly740Ser | |
| NM_153704.5:c.2461G>A , LRG_688t1:c.2461G>A | NP_714915.3:p.Gly821Ser | |
| NR_024522.1:n.2532G>A | ||
| XM_006716686.2:c.2158G>A | XP_006716749.1:p.Gly720Ser | |
| XM_006716687.2:c.1861G>A | XP_006716750.1:p.Gly621Ser | |
| XM_011517363.1:c.1579G>A | XP_011515665.1:p.Gly527Ser | |
| XR_428387.1:n.2519G>A | ||
| XR_928360.1:n.2519G>A | ||
| XR_928361.1:n.2519G>A | ||
| XR_928362.1:n.2519G>A | ||
| XM_006716686.4:c.2158G>A | XP_006716749.1:p.Gly720Ser | |
| XM_011517363.3:c.1579G>A | XP_011515665.1:p.Gly527Ser | |
| XM_024447326.1:c.1807G>A | XP_024303094.1:p.Gly603Ser | |
| XR_001745619.2:n.2502G>A | ||
| XR_428387.2:n.2502G>A | ||
| XR_928360.3:n.2502G>A | ||
| XR_928362.3:n.2502G>A | ||
| NM_153704.6:c.2461G>A MANE Select | NP_714915.3:p.Gly821Ser | |
| NR_024522.2:n.2482G>A |