Linked Data
dbSNP Id:
rs11568668
ExAC:
13:95839040 C / T
gnomAD v2:
13-95839040-C-T
gnomAD v3:
13-95186786-C-T
gnomAD v4:
13-95186786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95186786C>T , CM000675.2:g.95186786C>T | GRCh38 |
| NC_000013.10:g.95839040C>T , CM000675.1:g.95839040C>T | GRCh37 |
| NC_000013.9:g.94637041C>T | NCBI36 |
| NG_050651.1:g.119661G>A | |
| NG_050651.2:g.119661G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642524.1:c.*1493G>A | ENSP00000493766.1:n.*1493G>A | |
| ENST00000643051.1:c.1460G>A | ENSP00000495513.1:p.Gly487Glu | |
| ENST00000643556.1:c.1601G>A | ENSP00000494938.1:n.1601G>A | |
| ENST00000643816.1:n.1743G>A | ||
| ENST00000643842.1:c.*1506G>A | ENSP00000493861.1:n.*1506G>A | |
| ENST00000644471.1:n.1556G>A | ||
| ENST00000645237.2:c.1460G>A MANE Select | ENSP00000494609.1:p.Gly487Glu | |
| ENST00000645532.1:c.1499G>A | ENSP00000494431.1:p.Gly500Glu | |
| ENST00000646439.1:c.1460G>A | ENSP00000494751.1:p.Gly487Glu | |
| ENST00000376887.8:c.1460G>A | ENSP00000366084.4:p.Gly487Glu | |
| ENST00000536256.3:c.1235G>A | ENSP00000442024.1:p.Gly412Glu | |
| ENST00000629385.1:c.1460G>A | ENSP00000487081.1:p.Gly487Glu | |
| NM_001105515.2:c.1460G>A | NP_001098985.1:p.Gly487Glu | |
| NM_001301829.1:c.1460G>A | NP_001288758.1:p.Gly487Glu | |
| NM_001301830.1:c.1235G>A | NP_001288759.1:p.Gly412Glu | |
| NM_005845.4:c.1460G>A | NP_005836.2:p.Gly487Glu | |
| XM_005254025.2:c.1331G>A | XP_005254082.1:p.Gly444Glu | |
| XM_006719914.1:c.1370G>A | XP_006719977.1:p.Gly457Glu | |
| XM_011521047.1:c.911G>A | XP_011519349.1:p.Gly304Glu | |
| XM_017020319.1:c.1331G>A | XP_016875808.1:p.Gly444Glu | |
| XM_017020320.2:c.1460G>A | XP_016875809.1:p.Gly487Glu | |
| XM_017020322.1:c.1331G>A | XP_016875811.1:p.Gly444Glu | |
| NM_001105515.3:c.1460G>A | NP_001098985.1:p.Gly487Glu | |
| NM_001301829.2:c.1460G>A | NP_001288758.1:p.Gly487Glu | |
| NM_001301830.2:c.1235G>A | NP_001288759.1:p.Gly412Glu | |
| NM_005845.5:c.1460G>A MANE Select | NP_005836.2:p.Gly487Glu |