Linked Data
ClinVar Variation Id:
425042
dbSNP Id:
rs773401705
ExAC:
14:51087376 G / A
gnomAD v2:
14-51087376-G-A
gnomAD v3:
14-50620658-G-A
gnomAD v4:
14-50620658-G-A
COSMIC:
COSM1369966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50620658G>A , CM000676.2:g.50620658G>A | GRCh38 |
| NC_000014.8:g.51087376G>A , CM000676.1:g.51087376G>A | GRCh37 |
| NC_000014.7:g.50157126G>A | NCBI36 |
| NG_009028.1:g.92577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.922G>A | ENSP00000450989.2:p.Glu308Lys | |
| ENST00000556478.3:c.922G>A | ENSP00000501428.2:p.Glu308Lys | |
| ENST00000682037.1:c.922G>A | ENSP00000508289.1:p.Glu308Lys | |
| ENST00000682219.1:n.2260G>A | ||
| ENST00000682487.1:n.1256G>A | ||
| ENST00000683037.1:n.843G>A | ||
| ENST00000683330.1:n.1256G>A | ||
| ENST00000683837.1:n.1256G>A | ||
| ENST00000358385.12:c.922G>A MANE Select | ENSP00000351155.7:p.Glu308Lys | |
| ENST00000674288.1:c.*2214G>A | ENSP00000501522.1:n.*2214G>A | |
| ENST00000358385.10:c.922G>A | ENSP00000351155.6:p.Glu308Lys | |
| ENST00000441560.6:c.922G>A | ENSP00000413675.2:p.Glu308Lys | |
| ENST00000555266.1:c.134-1185G>A | ENSP00000450897.1:n.134-1185G>A | |
| NM_001127713.1:c.922G>A | NP_001121185.1:p.Glu308Lys | |
| NM_015915.4:c.922G>A | NP_056999.2:p.Glu308Lys | |
| NM_181598.3:c.922G>A | NP_853629.2:p.Glu308Lys | |
| NM_015915.5:c.922G>A MANE Select | NP_056999.2:p.Glu308Lys | |
| NM_181598.4:c.922G>A | NP_853629.2:p.Glu308Lys |