Linked Data
dbSNP Id:
rs901842724
gnomAD v2:
16-31276782-C-G
gnomAD v3:
16-31265461-C-G
gnomAD v4:
16-31265461-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31265461C>G , CM000678.2:g.31265461C>G | GRCh38 |
| NC_000016.9:g.31276782C>G , CM000678.1:g.31276782C>G | GRCh37 |
| NC_000016.8:g.31184283C>G | NCBI36 |
| NG_011719.1:g.10495C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544665.9:c.201C>G MANE Select | ENSP00000441691.3:p.Asp67Glu | |
| ENST00000648685.1:c.201C>G | ENSP00000496959.1:p.Asp67Glu | |
| ENST00000287497.12:c.201C>G | ENSP00000287497.8:p.Asp67Glu | |
| ENST00000544665.7:c.201C>G | ENSP00000441691.2:p.Asp67Glu | |
| NM_000632.3:c.201C>G | NP_000623.2:p.Asp67Glu | |
| NM_001145808.1:c.201C>G | NP_001139280.1:p.Asp67Glu | |
| XM_006721045.1:c.201C>G | XP_006721108.1:p.Asp67Glu | |
| XM_011545850.1:c.-15C>G | XP_011544152.1:n.-15C>G | |
| XM_011545851.1:c.201C>G | XP_011544153.1:p.Asp67Glu | |
| XR_950796.1:n.291C>G | ||
| XM_011545850.2:c.-15C>G | XP_011544152.1:n.-15C>G | |
| XM_011545851.2:c.201C>G | XP_011544153.1:p.Asp67Glu | |
| XM_017023216.1:c.201C>G | XP_016878705.1:p.Asp67Glu | |
| NM_000632.4:c.201C>G MANE Select | NP_000623.2:p.Asp67Glu | |
| NM_001145808.2:c.201C>G | NP_001139280.1:p.Asp67Glu |