Linked Data
ClinVar Variation Id:
212617
dbSNP Id:
rs79771882
ExAC:
16:78466478 G / A
gnomAD v2:
16-78466478-G-A
gnomAD v3:
16-78432581-G-A
gnomAD v4:
16-78432581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78432581G>A , CM000678.2:g.78432581G>A | GRCh38 |
| NC_000016.9:g.78466478G>A , CM000678.1:g.78466478G>A | GRCh37 |
| NC_000016.8:g.77023979G>A | NCBI36 |
| NG_011698.1:g.337928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.885G>A | ENSP00000485925.2:p.Arg295= | |
| ENST00000683929.1:c.885G>A | ENSP00000507689.1:p.Arg295= | |
| ENST00000684632.1:n.1264G>A | ||
| ENST00000566780.6:c.885G>A MANE Select | ENSP00000457230.1:p.Arg295= | |
| ENST00000402655.6:c.409+317427G>A | ENSP00000384238.2:n.409+317427G>A | |
| ENST00000406884.6:c.516+268292G>A | ENSP00000384495.2:n.516+268292G>A | |
| ENST00000408984.7:c.885G>A | ENSP00000386161.3:p.Arg295= | |
| ENST00000539474.6:c.409+317427G>A | ENSP00000445210.2:n.409+317427G>A | |
| ENST00000562639.5:n.573G>A | ||
| ENST00000566780.5:c.885G>A | ENSP00000457230.1:p.Arg295= | |
| ENST00000569332.5:c.*682G>A | ENSP00000454788.1:n.*682G>A | |
| ENST00000620008.1:c.279G>A | ENSP00000482648.1:p.Arg93= | |
| NM_001291997.1:c.546G>A | NP_001278926.1:p.Arg182= | |
| NM_016373.3:c.885G>A | NP_057457.1:p.Arg295= | |
| XM_006721195.2:c.885G>A | XP_006721258.1:p.Arg295= | |
| XM_011523100.1:c.885G>A | XP_011521402.1:p.Arg295= | |
| XM_011523101.1:c.885G>A | XP_011521403.1:p.Arg295= | |
| XM_011523102.1:c.885G>A | XP_011521404.1:p.Arg295= | |
| XM_011523103.1:c.885G>A | XP_011521405.1:p.Arg295= | |
| XM_011523104.1:c.885G>A | XP_011521406.1:p.Arg295= | |
| XR_933765.1:n.3418+1739C>T | ||
| XM_011523101.3:c.885G>A | XP_011521403.1:p.Arg295= | |
| XM_011523103.3:c.885G>A | XP_011521405.1:p.Arg295= | |
| XM_011523104.3:c.885G>A | XP_011521406.1:p.Arg295= | |
| NM_016373.4:c.885G>A MANE Select | NP_057457.1:p.Arg295= | |
| NM_001291997.2:c.546G>A | NP_001278926.1:p.Arg182= |