Linked Data
ClinVar Variation Id:
450688
ClinVar RCV Id:
RCV000521110
dbSNP Id:
rs1555572827
gnomAD v4:
17-56594519-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594519A>G , CM000679.2:g.56594519A>G | GRCh38 |
| NC_000017.10:g.54671880A>G , CM000679.1:g.54671880A>G | GRCh37 |
| NC_000017.9:g.52026879A>G | NCBI36 |
| NG_011958.1:g.5821A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.296A>G MANE Select | ENSP00000328181.4:p.Glu99Gly | |
| ENST00000332822.4:c.296A>G | ENSP00000328181.4:p.Glu99Gly | |
| NM_005450.4:c.296A>G | NP_005441.1:p.Glu99Gly | |
| NM_005450.6:c.296A>G MANE Select | NP_005441.1:p.Glu99Gly |