Linked Data
ClinVar Variation Id:
13880
dbSNP Id:
rs28933370
gnomAD v3:
17-39725125-A-G
gnomAD v4:
17-39725125-A-G
COSMIC:
COSM686
CIViC:
CA123601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39725125A>G , CM000679.2:g.39725125A>G | GRCh38 |
| NC_000017.10:g.37881378A>G , CM000679.1:g.37881378A>G | GRCh37 |
| NC_000017.9:g.35134904A>G | NCBI36 |
| NG_007503.1:g.41986A>G , LRG_724:g.41986A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2570A>G MANE Select | ENSP00000269571.4:p.Asn857Ser | |
| ENST00000269571.9:c.2570A>G | ENSP00000269571.4:p.Asn857Ser | |
| ENST00000406381.6:c.2480A>G | ENSP00000385185.2:p.Asn827Ser | |
| ENST00000445658.6:c.1742A>G | ENSP00000404047.2:p.Asn581Ser | |
| ENST00000541774.5:c.2525A>G | ENSP00000446466.1:p.Asn842Ser | |
| ENST00000578373.5:c.*2360A>G | ENSP00000463427.1:n.*2360A>G | |
| ENST00000580074.1:c.676A>G | ||
| ENST00000583038.5:n.3704A>G | ||
| ENST00000584450.5:c.2570A>G | ENSP00000463714.1:p.Asn857Ser | |
| ENST00000584601.5:c.2480A>G | ENSP00000462438.1:p.Asn827Ser | |
| NM_001005862.2:c.2480A>G , LRG_724t1:c.2480A>G | NP_001005862.1:p.Asn827Ser | |
| NM_001289936.1:c.2525A>G , LRG_724t4:c.2525A>G | NP_001276865.1:p.Asn842Ser | |
| NM_001289937.1:c.2570A>G | NP_001276866.1:p.Asn857Ser | |
| NM_004448.3:c.2570A>G , LRG_724t2:c.2570A>G | NP_004439.2:p.Asn857Ser | |
| NR_110535.1:n.2894A>G | ||
| XM_024450641.1:c.2708A>G | XP_024306409.1:p.Asn903Ser | |
| XM_024450642.1:c.2663A>G | XP_024306410.1:p.Asn888Ser | |
| XM_024450643.1:c.2618A>G | XP_024306411.1:p.Asn873Ser | |
| NM_001005862.3:c.2480A>G | NP_001005862.1:p.Asn827Ser | |
| NM_001289936.2:c.2525A>G | NP_001276865.1:p.Asn842Ser | |
| NM_001289937.2:c.2570A>G | NP_001276866.1:p.Asn857Ser | |
| NM_001382782.1:c.2480A>G | NP_001369711.1:p.Asn827Ser | |
| NM_001382783.1:c.2480A>G | NP_001369712.1:p.Asn827Ser | |
| NM_001382784.1:c.2687A>G | NP_001369713.1:p.Asn896Ser | |
| NM_001382785.1:c.2672A>G | NP_001369714.1:p.Asn891Ser | |
| NM_001382786.1:c.2651A>G | NP_001369715.1:p.Asn884Ser | |
| NM_001382787.1:c.2645A>G | NP_001369716.1:p.Asn882Ser | |
| NM_001382788.1:c.2600A>G | NP_001369717.1:p.Asn867Ser | |
| NM_001382789.1:c.2591A>G | NP_001369718.1:p.Asn864Ser | |
| NM_001382790.1:c.2567A>G | NP_001369719.1:p.Asn856Ser | |
| NM_001382791.1:c.2561A>G | NP_001369720.1:p.Asn854Ser | |
| NM_001382792.1:c.2534A>G | NP_001369721.1:p.Asn845Ser | |
| NM_001382793.1:c.2528A>G | NP_001369722.1:p.Asn843Ser | |
| NM_001382794.1:c.2528A>G | NP_001369723.1:p.Asn843Ser | |
| NM_001382795.1:c.2522A>G | NP_001369724.1:p.Asn841Ser | |
| NM_001382796.1:c.2570A>G | NP_001369725.1:p.Asn857Ser | |
| NM_001382797.1:c.2471A>G | NP_001369726.1:p.Asn824Ser | |
| NM_001382798.1:c.2494-202A>G | NP_001369727.1:n.2494-202A>G | |
| NM_001382799.1:c.2390A>G | NP_001369728.1:p.Asn797Ser | |
| NM_001382800.1:c.2384A>G | NP_001369729.1:p.Asn795Ser | |
| NM_001382801.1:c.2446-202A>G | NP_001369730.1:n.2446-202A>G | |
| NM_001382802.1:c.2312A>G | NP_001369731.1:p.Asn771Ser | |
| NM_001382803.1:c.2528A>G | NP_001369732.1:p.Asn843Ser | |
| NM_001382804.1:c.1742A>G | NP_001369733.1:p.Asn581Ser | |
| NM_001382805.1:c.2208+1465A>G | NP_001369734.1:n.2208+1465A>G | |
| NM_001382806.1:c.1532A>G | NP_001369735.1:p.Asn511Ser | |
| NM_004448.4:c.2570A>G MANE Select | NP_004439.2:p.Asn857Ser | |
| NR_110535.2:n.2808A>G |