Linked Data
ClinVar Variation Id:
421105
ClinVar RCV Id:
RCV000486395
dbSNP Id:
rs1064794912
gnomAD v2:
1-228345892-G-A
gnomAD v4:
1-228158191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158191G>A , CM000663.2:g.228158191G>A | GRCh38 |
| NC_000001.10:g.228345892G>A , CM000663.1:g.228345892G>A | GRCh37 |
| NC_000001.9:g.226412515G>A | NCBI36 |
| NG_011838.1:g.13340G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366714.3:c.433G>A MANE Select | ENSP00000355675.2:p.Glu145Lys | |
| ENST00000366714.2:c.433G>A | ENSP00000355675.2:p.Glu145Lys | |
| NM_020435.3:c.433G>A | NP_065168.2:p.Glu145Lys | |
| NM_020435.4:c.433G>A MANE Select | NP_065168.2:p.Glu145Lys |