Linked Data
ClinVar Variation Id:
740123
ClinVar RCV Id:
RCV001467150
dbSNP Id:
rs910639529
gnomAD v2:
17-40688449-G-A
gnomAD v3:
17-42536431-G-A
gnomAD v4:
17-42536431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536431G>A , CM000679.2:g.42536431G>A | GRCh38 |
| NC_000017.10:g.40688449G>A , CM000679.1:g.40688449G>A | GRCh37 |
| NC_000017.9:g.37941975G>A | NCBI36 |
| NG_011552.1:g.5499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.159G>A MANE Select | ENSP00000225927.1:p.Glu53= | |
| ENST00000225927.6:c.159G>A | ENSP00000225927.1:p.Glu53= | |
| NM_000263.3:c.159G>A | NP_000254.2:p.Glu53= | |
| XM_024450771.1:c.159G>A | XP_024306539.1:p.Glu53= | |
| NM_000263.4:c.159G>A MANE Select | NP_000254.2:p.Glu53= |