Linked Data
ClinVar Variation Id:
222819
ClinVar RCV Id:
RCV000208203
dbSNP Id:
rs869025525
gnomAD v4:
1-2229118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2229118G>A , CM000663.2:g.2229118G>A | GRCh38 |
| NC_000001.10:g.2160557G>A , CM000663.1:g.2160557G>A | GRCh37 |
| NC_000001.9:g.2150417G>A | NCBI36 |
| NG_013084.1:g.5424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.137+1594G>A | ||
| ENST00000378536.5:c.352G>A MANE Select | ENSP00000367797.4:p.Glu118Lys | |
| ENST00000378536.4:c.352G>A | ENSP00000367797.4:p.Glu118Lys | |
| NM_003036.3:c.352G>A | NP_003027.1:p.Glu118Lys | |
| XM_005244775.2:c.352G>A | XP_005244832.1:p.Glu118Lys | |
| XM_005244775.3:c.352G>A | XP_005244832.1:p.Glu118Lys | |
| NM_003036.4:c.352G>A MANE Select | NP_003027.1:p.Glu118Lys |