Linked Data
dbSNP Id:
rs781549278
ExAC:
1:230841908 C / T
gnomAD v2:
1-230841908-C-T
gnomAD v4:
1-230706162-C-T
COSMIC:
COSM3485000
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230706162C>T , CM000663.2:g.230706162C>T | GRCh38 |
| NC_000001.10:g.230841908C>T , CM000663.1:g.230841908C>T | GRCh37 |
| NC_000001.9:g.228908531C>T | NCBI36 |
| NG_008836.1:g.13429G>A | |
| NG_008836.2:g.13429G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.868G>A MANE Select | ENSP00000355627.5:p.Glu290Lys | |
| ENST00000679684.1:c.868G>A | ENSP00000505981.1:p.Glu290Lys | |
| ENST00000679738.1:c.868G>A | ENSP00000505063.1:p.Glu290Lys | |
| ENST00000679802.1:c.*327G>A | ENSP00000505184.1:n.*327G>A | |
| ENST00000679854.1:n.5173G>A | ||
| ENST00000679957.1:c.868G>A | ENSP00000506646.1:p.Glu290Lys | |
| ENST00000680041.1:c.868G>A | ENSP00000504866.1:p.Glu290Lys | |
| ENST00000680783.1:c.829+3833G>A | ENSP00000506329.1:n.829+3833G>A | |
| ENST00000681269.1:c.868G>A | ENSP00000505985.1:p.Glu290Lys | |
| ENST00000681347.1:n.1379G>A | ||
| ENST00000681514.1:c.868G>A | ENSP00000505963.1:p.Glu290Lys | |
| ENST00000681772.1:c.868G>A | ENSP00000505829.1:p.Glu290Lys | |
| ENST00000366667.4:c.895G>A | ENSP00000355627.4:p.Glu299Lys | |
| NM_000029.3:c.895G>A | NP_000020.1:p.Glu299Lys | |
| NM_000029.4:c.895G>A | NP_000020.1:p.Glu299Lys | |
| NM_001382817.3:c.868G>A | NP_001369746.2:p.Glu290Lys | |
| NM_001384479.1:c.868G>A MANE Select | NP_001371408.1:p.Glu290Lys |