Linked Data
ClinVar Variation Id:
726032
ClinVar RCV Id:
RCV000900188
dbSNP Id:
rs140450722
ExAC:
X:107328208 C / T
gnomAD v2:
X-107328208-C-T
gnomAD v3:
X-108084978-C-T
gnomAD v4:
X-108084978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084978C>T , CM000685.2:g.108084978C>T | GRCh38 |
| NC_000023.10:g.107328208C>T , CM000685.1:g.107328208C>T | GRCh37 |
| NC_000023.9:g.107214864C>T | NCBI36 |
| NG_012521.1:g.11641G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.677G>A MANE Select | ENSP00000217958.3:p.Gly226Asp | |
| ENST00000217958.7:c.677G>A | ENSP00000217958.3:p.Gly226Asp | |
| ENST00000340200.5:c.578G>A | ENSP00000345963.5:p.Gly193Asp | |
| ENST00000361815.9:c.*142G>A | ENSP00000354906.5:n.*142G>A | |
| ENST00000372295.5:c.554G>A | ENSP00000361369.1:p.Gly185Asp | |
| ENST00000372296.5:c.*142G>A | ENSP00000361370.1:n.*142G>A | |
| NM_002814.3:c.677G>A | NP_002805.1:p.Gly226Asp | |
| NM_170750.2:c.*142G>A | NP_736606.1:n.*142G>A | |
| NM_002814.4:c.677G>A MANE Select | NP_002805.1:p.Gly226Asp | |
| NM_170750.3:c.*142G>A | NP_736606.1:n.*142G>A |