Linked Data
ClinVar Variation Id:
382624
dbSNP Id:
rs752194539
ExAC:
X:106882690 G / A
gnomAD v2:
X-106882690-G-A
gnomAD v3:
X-107639460-G-A
gnomAD v4:
X-107639460-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107639460G>A , CM000685.2:g.107639460G>A | GRCh38 |
| NC_000023.10:g.106882690G>A , CM000685.1:g.106882690G>A | GRCh37 |
| NC_000023.9:g.106769346G>A | NCBI36 |
| NG_008407.1:g.16037G>A , LRG_264:g.16037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.288G>A | ENSP00000361495.2:p.Arg96= | |
| ENST00000372435.10:c.288G>A MANE Select | ENSP00000361512.4:p.Arg96= | |
| ENST00000643795.2:c.288G>A | ENSP00000496286.1:p.Arg96= | |
| ENST00000644642.1:c.123-5717G>A | ENSP00000495493.1:n.123-5717G>A | |
| ENST00000645638.1:c.*257G>A | ENSP00000496554.1:n.*257G>A | |
| ENST00000645903.1:n.382G>A | ||
| ENST00000674525.1:n.373G>A | ||
| ENST00000674826.1:c.123-1442G>A | ENSP00000502278.1:n.123-1442G>A | |
| ENST00000674843.1:c.390G>A | ENSP00000502260.1:n.390G>A | |
| ENST00000675046.1:c.166G>A | ||
| ENST00000675304.1:n.221G>A | ||
| ENST00000675720.1:c.166G>A | ||
| ENST00000676092.1:c.288G>A | ENSP00000502780.1:p.Arg96= | |
| ENST00000372418.2:c.87G>A | ENSP00000361495.1:p.Arg29= | |
| ENST00000372419.3:c.288G>A | ENSP00000361496.3:p.Arg96= | |
| ENST00000372428.8:c.-82-5717G>A | ENSP00000361505.5:n.-82-5717G>A | |
| ENST00000372435.8:c.288G>A | ENSP00000361512.4:p.Arg96= | |
| NM_001204402.1:c.-82-5717G>A | NP_001191331.1:n.-82-5717G>A | |
| NM_002764.3:c.288G>A , LRG_264t1:c.288G>A | NP_002755.1:p.Arg96= | |
| NM_002764.4:c.288G>A MANE Select | NP_002755.1:p.Arg96= | |
| NM_001204402.2:c.-82-5717G>A | NP_001191331.1:n.-82-5717G>A |