Linked Data
ClinVar Variation Id:
1516486
ClinVar RCV Id:
RCV002040855
dbSNP Id:
rs2097481432
gnomAD v3:
10-122461776-G-A
gnomAD v4:
10-122461776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461776G>A , CM000672.2:g.122461776G>A | GRCh38 |
| NC_000010.10:g.124221292G>A , CM000672.1:g.124221292G>A | GRCh37 |
| NC_000010.9:g.124211282G>A | NCBI36 |
| NG_011554.1:g.5252G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.124G>A MANE Select | ENSP00000357980.3:p.Glu42Lys | |
| ENST00000648167.1:c.154+3067G>A | ENSP00000498033.1:n.154+3067G>A | |
| ENST00000368984.7:c.124G>A | ENSP00000357980.3:p.Glu42Lys | |
| NM_002775.4:c.124G>A | NP_002766.1:p.Glu42Lys | |
| NM_002775.5:c.124G>A MANE Select | NP_002766.1:p.Glu42Lys |