Linked Data
ClinVar Variation Id:
886886
ClinVar RCV Id:
RCV001119324
dbSNP Id:
rs879319131
gnomAD v3:
16-13948565-A-G
gnomAD v4:
16-13948565-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948565A>G , CM000678.2:g.13948565A>G | GRCh38 |
| NC_000016.9:g.14042422A>G , CM000678.1:g.14042422A>G | GRCh37 |
| NC_000016.8:g.13949923A>G | NCBI36 |
| NG_011442.1:g.33409A>G , LRG_463:g.33409A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.*218A>G | ENSP00000507912.1:n.*218A>G | |
| ENST00000683962.1:c.*2663A>G | ENSP00000506854.1:n.*2663A>G | |
| ENST00000311895.8:c.*218A>G MANE Select | ENSP00000310520.7:n.*218A>G | |
| ENST00000311895.7:c.*218A>G | ENSP00000310520.7:n.*218A>G | |
| NM_005236.2:c.*218A>G , LRG_463t1:c.*218A>G | NP_005227.1:n.*218A>G | |
| XM_011522424.1:c.*218A>G | XP_011520726.1:n.*218A>G | |
| XM_011522425.1:c.*218A>G | XP_011520727.1:n.*218A>G | |
| XM_011522426.1:c.*218A>G | XP_011520728.1:n.*218A>G | |
| XM_011522427.1:c.*218A>G | XP_011520729.1:n.*218A>G | |
| XR_932805.1:n.3073+55A>G | ||
| XM_011522424.3:c.*218A>G | XP_011520726.1:n.*218A>G | |
| XM_017023043.2:c.*218A>G | XP_016878532.1:n.*218A>G | |
| NM_005236.3:c.*218A>G MANE Select | NP_005227.1:n.*218A>G |