Linked Data
ClinVar Variation Id:
2956126
ClinVar RCV Id:
RCV003813862
dbSNP Id:
rs782257058
ExAC:
X:48385632 A / G
gnomAD v2:
X-48385632-A-G
gnomAD v3:
X-48527244-A-G
gnomAD v4:
X-48527244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527244A>G , CM000685.2:g.48527244A>G | GRCh38 |
| NC_000023.10:g.48385632A>G , CM000685.1:g.48385632A>G | GRCh37 |
| NC_000023.9:g.48270576A>G | NCBI36 |
| NG_007452.1:g.10469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.428A>G MANE Select | ENSP00000417052.1:p.Gln143Arg | |
| ENST00000651615.1:c.428A>G | ENSP00000498524.1:p.Gln143Arg | |
| ENST00000276096.10:n.386A>G | ||
| ENST00000414061.1:c.428A>G | ENSP00000405832.1:p.Gln143Arg | |
| ENST00000446158.5:c.428A>G | ENSP00000390031.1:p.Gln143Arg | |
| ENST00000466461.1:n.267A>G | ||
| ENST00000495186.5:c.428A>G | ENSP00000417052.1:p.Gln143Arg | |
| ENST00000498425.1:n.549A>G | ||
| NM_006579.2:c.428A>G | NP_006570.1:p.Gln143Arg | |
| NM_006579.3:c.428A>G MANE Select | NP_006570.1:p.Gln143Arg |