Linked Data
ClinVar Variation Id:
1421455
ClinVar RCV Id:
RCV001943797
dbSNP Id:
rs1415647997
gnomAD v4:
5-146340184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340184G>A , CM000667.2:g.146340184G>A | GRCh38 |
| NC_000005.9:g.145719747G>A , CM000667.1:g.145719747G>A | GRCh37 |
| NC_000005.8:g.145699940G>A | NCBI36 |
| NG_011885.1:g.6161G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.757G>A MANE Select | ENSP00000495718.1:p.Glu253Lys | |
| ENST00000230732.4:c.757G>A | ENSP00000230732.4:p.Glu253Lys | |
| NM_002700.2:c.757G>A | NP_002691.1:p.Glu253Lys | |
| NM_002700.3:c.757G>A MANE Select | NP_002691.1:p.Glu253Lys |