Linked Data
dbSNP Id:
rs1976498196
gnomAD v4:
17-6780738-A-G
MyVariant Identifiers:
chr17:g.6684057A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780738A>G , CM000679.2:g.6780738A>G | GRCh38 |
| NC_000017.10:g.6684057A>G , CM000679.1:g.6684057A>G | GRCh37 |
| NC_000017.9:g.6624781A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.870A>G MANE Select | ENSP00000321386.4:p.Glu290= | |
| ENST00000321535.4:c.870A>G | ENSP00000321386.4:p.Glu290= | |
| NM_153230.2:c.870A>G | NP_694962.1:p.Glu290= | |
| XM_011523697.1:c.870A>G | XP_011521999.1:p.Glu290= | |
| XR_243544.3:n.1048A>G | ||
| NM_153230.3:c.870A>G MANE Select | NP_694962.1:p.Glu290= |