Linked Data
ClinVar Variation Id:
320179
dbSNP Id:
rs367654370
ExAC:
16:67199648 G / A
gnomAD v2:
16-67199648-G-A
gnomAD v3:
16-67165745-G-A
gnomAD v4:
16-67165745-G-A
COSMIC:
COSM4061752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67165745G>A , CM000678.2:g.67165745G>A | GRCh38 |
| NC_000016.9:g.67199648G>A , CM000678.1:g.67199648G>A | GRCh37 |
| NC_000016.8:g.65757149G>A | NCBI36 |
| NG_009294.1:g.7361G>A | |
| NG_029566.1:g.244G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517867.2:n.542G>A | ||
| ENST00000523077.2:n.758G>A | ||
| ENST00000521374.6:c.259G>A MANE Select | ENSP00000430947.2:p.Glu87Lys | |
| ENST00000434833.6:c.259G>A | ENSP00000403219.2:p.Glu87Lys | |
| ENST00000517685.5:c.259G>A | ENSP00000428978.1:p.Glu87Lys | |
| ENST00000517729.5:c.133G>A | ENSP00000430299.1:p.Glu45Lys | |
| ENST00000518753.5:c.431G>A | ||
| ENST00000521314.5:c.*6G>A | ENSP00000429580.1:n.*6G>A | |
| ENST00000521374.5:c.259G>A | ENSP00000430947.1:p.Glu87Lys | |
| ENST00000521624.5:c.259G>A | ENSP00000428161.1:p.Glu87Lys | |
| ENST00000522023.1:n.326G>A | ||
| ENST00000522295.5:c.259G>A | ENSP00000427832.1:p.Glu87Lys | |
| ENST00000522870.5:n.478G>A | ||
| ENST00000523077.1:n.758G>A | ||
| ENST00000523562.5:c.259G>A | ENSP00000430631.1:p.Glu87Lys | |
| ENST00000580114.5:c.1224G>A | ||
| ENST00000584272.5:c.259G>A | ENSP00000463706.1:p.Glu87Lys | |
| NM_001040667.2:c.259G>A | NP_001035757.1:p.Glu87Lys | |
| NM_001538.3:c.259G>A | NP_001529.2:p.Glu87Lys | |
| NM_001040667.3:c.259G>A | NP_001035757.1:p.Glu87Lys | |
| NM_001374674.1:c.259G>A | NP_001361603.1:p.Glu87Lys | |
| NM_001374675.1:c.259G>A MANE Select | NP_001361604.1:p.Glu87Lys | |
| NM_001538.4:c.259G>A | NP_001529.2:p.Glu87Lys |