Linked Data
dbSNP Id:
rs1445864476
gnomAD v2:
22-43558994-G-A
gnomAD v3:
22-43162988-G-A
gnomAD v4:
22-43162988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162988G>A , CM000684.2:g.43162988G>A | GRCh38 |
| NC_000022.10:g.43558994G>A , CM000684.1:g.43558994G>A | GRCh37 |
| NC_000022.9:g.41888938G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.507G>A MANE Select | ENSP00000338004.3:p.Glu169= | |
| ENST00000329563.8:c.507G>A | ENSP00000328973.4:p.Glu169= | |
| ENST00000337554.7:c.507G>A | ENSP00000338004.3:p.Glu169= | |
| ENST00000396265.4:c.507G>A | ENSP00000379563.4:p.Glu169= | |
| ENST00000583777.5:c.195G>A | ENSP00000463495.1:p.Glu65= | |
| NM_000714.5:c.507G>A | NP_000705.2:p.Glu169= | |
| NM_001256530.1:c.507G>A | NP_001243459.1:p.Glu169= | |
| NM_001256531.1:c.507G>A | NP_001243460.1:p.Glu169= | |
| NR_046308.1:n.416G>A | ||
| NM_000714.6:c.507G>A MANE Select | NP_000705.2:p.Glu169= | |
| NR_046308.2:n.371G>A |