Linked Data
ClinVar Variation Id:
2006316
ClinVar RCV Id:
RCV002811683
dbSNP Id:
rs1304529237
gnomAD v2:
7-143018922-G-A
gnomAD v4:
7-143321829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321829G>A , CM000669.2:g.143321829G>A | GRCh38 |
| NC_000007.13:g.143018922G>A , CM000669.1:g.143018922G>A | GRCh37 |
| NC_000007.12:g.142729044G>A | NCBI36 |
| NG_009815.1:g.10704G>A | |
| NG_009815.2:g.10704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.677G>A | ENSP00000498052.2:p.Gly226Asp | |
| ENST00000343257.7:c.677G>A MANE Select | ENSP00000339867.2:p.Gly226Asp | |
| ENST00000432192.6:c.445G>A | ||
| ENST00000455478.6:c.131G>A | ENSP00000400027.2:p.Gly44Asp | |
| ENST00000650516.1:c.677G>A | ENSP00000498052.1:p.Gly226Asp | |
| ENST00000343257.6:c.677G>A | ENSP00000339867.2:p.Gly226Asp | |
| ENST00000432192.5:c.135G>A | ||
| ENST00000455478.5:c.135G>A | ||
| ENST00000495612.1:n.135G>A | ||
| NM_000083.2:c.677G>A | NP_000074.2:p.Gly226Asp | |
| NR_046453.1:n.764G>A | ||
| XM_011515781.1:c.677G>A | XP_011514083.1:p.Gly226Asp | |
| XM_017011739.1:c.384G>A | XP_016867228.1:p.Trp128Ter | |
| XM_017011740.1:c.384G>A | XP_016867229.1:p.Trp128Ter | |
| NM_000083.3:c.677G>A MANE Select | NP_000074.3:p.Gly226Asp | |
| NR_046453.2:n.779G>A |