Linked Data
ClinVar Variation Id:
1061550
ClinVar RCV Id:
RCV001371153
dbSNP Id:
rs754210939
COSMIC:
COSM2099545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6841315G>A , CM000674.2:g.6841315G>A | GRCh38 |
| NC_000012.11:g.6950479G>A , CM000674.1:g.6950479G>A | GRCh37 |
| NC_000012.10:g.6820740G>A | NCBI36 |
| NG_009100.1:g.6105G>A | |
| NG_033740.1:g.17943G>A | |
| NG_009100.2:g.6105G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.28G>A MANE Select | ENSP00000229264.3:p.Glu10Lys | |
| ENST00000675241.1:c.28G>A | ENSP00000501677.1:p.Glu10Lys | |
| ENST00000229264.7:c.28G>A | ENSP00000229264.3:p.Glu10Lys | |
| ENST00000435982.6:c.28G>A | ENSP00000414734.2:p.Glu10Lys | |
| ENST00000537035.1:c.28G>A | ENSP00000445967.1:p.Glu10Lys | |
| ENST00000539127.5:c.28G>A | ENSP00000444325.1:p.Glu10Lys | |
| ENST00000540458.5:n.1138G>A | ||
| ENST00000541257.5:c.28G>A | ENSP00000442002.1:p.Glu10Lys | |
| ENST00000541978.5:c.28G>A | ENSP00000439753.2:p.Glu10Lys | |
| ENST00000542868.1:n.275G>A | ||
| NM_001297571.1:c.28G>A | NP_001284500.1:p.Glu10Lys | |
| NM_002075.3:c.28G>A | NP_002066.1:p.Glu10Lys | |
| XM_011520953.1:c.28G>A | XP_011519255.1:p.Glu10Lys | |
| XM_011520954.1:c.28G>A | XP_011519256.1:p.Glu10Lys | |
| XM_011520953.3:c.28G>A | XP_011519255.1:p.Glu10Lys | |
| NM_001297571.2:c.28G>A | NP_001284500.1:p.Glu10Lys | |
| NM_002075.4:c.28G>A MANE Select | NP_002066.1:p.Glu10Lys |