Linked Data
ClinVar Variation Id:
8863
ClinVar RCV Id:
RCV000009413
RCV000445478
RCV000523853
RCV001258264
RCV001659687
RCV002362573
RCV002467490
dbSNP Id:
rs137852787
ExAC:
13:28498656 G / A
gnomAD v2:
13-28498656-G-A
gnomAD v3:
13-27924519-G-A
gnomAD v4:
13-27924519-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924519G>A , CM000675.2:g.27924519G>A | GRCh38 |
| NC_000013.10:g.28498656G>A , CM000675.1:g.28498656G>A | GRCh37 |
| NC_000013.9:g.27396656G>A | NCBI36 |
| NG_008183.1:g.9489G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381033.5:c.670G>A MANE Select | ENSP00000370421.4:p.Glu224Lys | |
| ENST00000381033.4:c.670G>A | ENSP00000370421.4:p.Glu224Lys | |
| NM_000209.3:c.670G>A | NP_000200.1:p.Glu224Lys | |
| NM_000209.4:c.670G>A MANE Select | NP_000200.1:p.Glu224Lys |