Linked Data
ClinVar Variation Id:
435076
dbSNP Id:
rs3136092
ExAC:
16:14020500 A / G
gnomAD v2:
16-14020500-A-G
gnomAD v3:
16-13926643-A-G
gnomAD v4:
16-13926643-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13926643A>G , CM000678.2:g.13926643A>G | GRCh38 |
| NC_000016.9:g.14020500A>G , CM000678.1:g.14020500A>G | GRCh37 |
| NC_000016.8:g.13928001A>G | NCBI36 |
| NG_011442.1:g.11487A>G , LRG_463:g.11487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.459A>G | ||
| ENST00000682568.1:n.401A>G | ||
| ENST00000682617.1:c.609A>G | ENSP00000507912.1:p.Lys203= | |
| ENST00000682826.1:c.471A>G | ENSP00000507274.1:p.Lys157= | |
| ENST00000682909.1:n.2511A>G | ||
| ENST00000683277.1:n.2116A>G | ||
| ENST00000683407.1:n.479A>G | ||
| ENST00000683962.1:c.*165A>G | ENSP00000506854.1:n.*165A>G | |
| ENST00000311895.8:c.471A>G MANE Select | ENSP00000310520.7:p.Lys157= | |
| ENST00000311895.7:c.471A>G | ENSP00000310520.7:p.Lys157= | |
| ENST00000574194.1:c.92A>G | ||
| ENST00000575156.5:c.471A>G | ENSP00000459933.1:p.Lys157= | |
| ENST00000576348.1:n.446A>G | ||
| NM_005236.2:c.471A>G , LRG_463t1:c.471A>G | NP_005227.1:p.Lys157= | |
| XM_011522424.1:c.609A>G | XP_011520726.1:p.Lys203= | |
| XM_011522425.1:c.-73A>G | XP_011520727.1:n.-73A>G | |
| XR_932805.1:n.630A>G | ||
| XM_011522424.3:c.609A>G | XP_011520726.1:p.Lys203= | |
| XM_017023043.2:c.-467A>G | XP_016878532.1:n.-467A>G | |
| NM_005236.3:c.471A>G MANE Select | NP_005227.1:p.Lys157= |