Linked Data
ClinVar Variation Id:
1116423
ClinVar RCV Id:
RCV001444776
dbSNP Id:
rs1417783312
gnomAD v2:
16-14041931-G-A
gnomAD v3:
16-13948074-G-A
gnomAD v4:
16-13948074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948074G>A , CM000678.2:g.13948074G>A | GRCh38 |
| NC_000016.9:g.14041931G>A , CM000678.1:g.14041931G>A | GRCh37 |
| NC_000016.8:g.13949432G>A | NCBI36 |
| NG_011442.1:g.32918G>A , LRG_463:g.32918G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2616G>A | ENSP00000507912.1:p.Ala872= | |
| ENST00000683962.1:c.*2172G>A | ENSP00000506854.1:n.*2172G>A | |
| ENST00000311895.8:c.2478G>A MANE Select | ENSP00000310520.7:p.Ala826= | |
| ENST00000311895.7:c.2478G>A | ENSP00000310520.7:p.Ala826= | |
| ENST00000389138.7:n.1755G>A | ||
| NM_005236.2:c.2478G>A , LRG_463t1:c.2478G>A | NP_005227.1:p.Ala826= | |
| XM_011522424.1:c.2616G>A | XP_011520726.1:p.Ala872= | |
| XM_011522425.1:c.1935G>A | XP_011520727.1:p.Ala645= | |
| XM_011522426.1:c.1689G>A | XP_011520728.1:p.Ala563= | |
| XM_011522427.1:c.1128G>A | XP_011520729.1:p.Ala376= | |
| XR_932805.1:n.2637G>A | ||
| XM_011522424.3:c.2616G>A | XP_011520726.1:p.Ala872= | |
| XM_017023043.2:c.1689G>A | XP_016878532.1:p.Ala563= | |
| NM_005236.3:c.2478G>A MANE Select | NP_005227.1:p.Ala826= |