Linked Data
ClinVar Variation Id:
1928247
ClinVar RCV Id:
RCV002614437
dbSNP Id:
rs372022466
ExAC:
16:81388075 C / G
gnomAD v2:
16-81388075-C-G
gnomAD v3:
16-81354470-C-G
gnomAD v4:
16-81354470-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354470C>G , CM000678.2:g.81354470C>G | GRCh38 |
| NC_000016.9:g.81388075C>G , CM000678.1:g.81388075C>G | GRCh37 |
| NC_000016.8:g.79945576C>G | NCBI36 |
| NG_009007.1:g.44505C>G , LRG_242:g.44505C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*56C>G | ENSP00000498114.1:n.*56C>G | |
| ENST00000648994.2:c.348C>G MANE Select | ENSP00000497351.1:p.Asp116Glu | |
| ENST00000650388.1:c.168-2315C>G | ENSP00000498081.1:n.168-2315C>G | |
| ENST00000674788.1:n.473C>G | ||
| ENST00000568107.2:c.348C>G | ENSP00000476795.1:p.Asp116Glu | |
| NM_022041.3:c.348C>G , LRG_242t1:c.348C>G | NP_071324.1:p.Asp116Glu | |
| XM_017023734.1:c.-292C>G | XP_016879223.1:n.-292C>G | |
| NM_001377486.1:c.-292C>G | NP_001364415.1:n.-292C>G | |
| NM_022041.4:c.348C>G MANE Select | NP_071324.1:p.Asp116Glu |