Linked Data
ClinVar Variation Id:
1035352
ClinVar RCV Id:
RCV001338208
dbSNP Id:
rs367715125
gnomAD v4:
X-43744369-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43744369C>A , CM000685.2:g.43744369C>A | GRCh38 |
| NC_000023.10:g.43603616C>A , CM000685.1:g.43603616C>A | GRCh37 |
| NC_000023.9:g.43488560C>A | NCBI36 |
| NG_008957.2:g.93209C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.1041C>A | ENSP00000440846.1:p.Asp347Glu | |
| ENST00000686683.1:c.750C>A | ENSP00000509063.1:p.Asp250Glu | |
| ENST00000686980.1:n.5972C>A | ||
| ENST00000688006.1:c.1041C>A | ENSP00000510311.1:p.Asp347Glu | |
| ENST00000688859.1:n.996C>A | ||
| ENST00000689087.1:c.1041C>A | ENSP00000508997.1:p.Asp347Glu | |
| ENST00000693128.1:c.1335C>A | ENSP00000508493.1:p.Asp445Glu | |
| ENST00000338702.4:c.1440C>A MANE Select | ENSP00000340684.3:p.Asp480Glu | |
| ENST00000338702.3:c.1440C>A | ENSP00000340684.3:p.Asp480Glu | |
| ENST00000490604.1:n.268C>A | ||
| ENST00000542639.5:c.1041C>A | ENSP00000440846.1:p.Asp347Glu | |
| NM_000240.3:c.1440C>A | NP_000231.1:p.Asp480Glu | |
| NM_001270458.1:c.1041C>A | NP_001257387.1:p.Asp347Glu | |
| NM_000240.4:c.1440C>A MANE Select | NP_000231.1:p.Asp480Glu | |
| NM_001270458.2:c.1041C>A | NP_001257387.1:p.Asp347Glu |