Linked Data
ClinVar Variation Id:
240126
dbSNP Id:
rs2020961
ExAC:
16:14020532 C / G
gnomAD v2:
16-14020532-C-G
gnomAD v3:
16-13926675-C-G
gnomAD v4:
16-13926675-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13926675C>G , CM000678.2:g.13926675C>G | GRCh38 |
| NC_000016.9:g.14020532C>G , CM000678.1:g.14020532C>G | GRCh37 |
| NC_000016.8:g.13928033C>G | NCBI36 |
| NG_011442.1:g.11519C>G , LRG_463:g.11519C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.491C>G | ||
| ENST00000682568.1:n.433C>G | ||
| ENST00000682617.1:c.641C>G | ENSP00000507912.1:p.Ala214Gly | |
| ENST00000682826.1:c.503C>G | ENSP00000507274.1:p.Ala168Gly | |
| ENST00000682909.1:n.2543C>G | ||
| ENST00000683277.1:n.2148C>G | ||
| ENST00000683407.1:n.511C>G | ||
| ENST00000683962.1:c.*197C>G | ENSP00000506854.1:n.*197C>G | |
| ENST00000311895.8:c.503C>G MANE Select | ENSP00000310520.7:p.Ala168Gly | |
| ENST00000311895.7:c.503C>G | ENSP00000310520.7:p.Ala168Gly | |
| ENST00000574194.1:c.124C>G | ||
| ENST00000575156.5:c.503C>G | ENSP00000459933.1:p.Ala168Gly | |
| ENST00000576348.1:n.478C>G | ||
| NM_005236.2:c.503C>G , LRG_463t1:c.503C>G | NP_005227.1:p.Ala168Gly | |
| XM_011522424.1:c.641C>G | XP_011520726.1:p.Ala214Gly | |
| XM_011522425.1:c.-41C>G | XP_011520727.1:n.-41C>G | |
| XR_932805.1:n.662C>G | ||
| XM_011522424.3:c.641C>G | XP_011520726.1:p.Ala214Gly | |
| XM_017023043.2:c.-435C>G | XP_016878532.1:n.-435C>G | |
| NM_005236.3:c.503C>G MANE Select | NP_005227.1:p.Ala168Gly |