Linked Data
ClinVar Variation Id:
2044281
ClinVar RCV Id:
RCV002900218
dbSNP Id:
rs374129053
ExAC:
X:43603025 C / G
gnomAD v2:
X-43603025-C-G
gnomAD v3:
X-43743778-C-G
gnomAD v4:
X-43743778-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43743778C>G , CM000685.2:g.43743778C>G | GRCh38 |
| NC_000023.10:g.43603025C>G , CM000685.1:g.43603025C>G | GRCh37 |
| NC_000023.9:g.43487969C>G | NCBI36 |
| NG_008957.2:g.92618C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.864-16C>G | ENSP00000440846.1:n.864-16C>G | |
| ENST00000686683.1:c.573-16C>G | ENSP00000509063.1:n.573-16C>G | |
| ENST00000686980.1:n.5795-16C>G | ||
| ENST00000688006.1:c.864-16C>G | ENSP00000510311.1:n.864-16C>G | |
| ENST00000688859.1:n.819-16C>G | ||
| ENST00000689087.1:c.864-16C>G | ENSP00000508997.1:n.864-16C>G | |
| ENST00000693128.1:c.1158-16C>G | ENSP00000508493.1:n.1158-16C>G | |
| ENST00000338702.4:c.1263-16C>G MANE Select | ENSP00000340684.3:n.1263-16C>G | |
| ENST00000338702.3:c.1263-16C>G | ENSP00000340684.3:n.1263-16C>G | |
| ENST00000490604.1:n.75C>G | ||
| ENST00000542639.5:c.864-16C>G | ENSP00000440846.1:n.864-16C>G | |
| NM_000240.3:c.1263-16C>G | NP_000231.1:n.1263-16C>G | |
| NM_001270458.1:c.864-16C>G | NP_001257387.1:n.864-16C>G | |
| NM_000240.4:c.1263-16C>G MANE Select | NP_000231.1:n.1263-16C>G | |
| NM_001270458.2:c.864-16C>G | NP_001257387.1:n.864-16C>G |