Linked Data
ClinVar Variation Id:
35639
ClinVar RCV Id:
RCV000029286
dbSNP Id:
rs193922095
ExAC:
X:153006177 G / A
gnomAD v2:
X-153006177-G-A
gnomAD v3:
X-153740723-G-A
gnomAD v4:
X-153740723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740723G>A , CM000685.2:g.153740723G>A | GRCh38 |
| NC_000023.10:g.153006177G>A , CM000685.1:g.153006177G>A | GRCh37 |
| NC_000023.9:g.152659371G>A | NCBI36 |
| NG_009022.2:g.20856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+4G>A MANE Select | ENSP00000218104.3:n.1780+4G>A | |
| ENST00000218104.5:c.1780+4G>A | ENSP00000218104.3:n.1780+4G>A | |
| NM_000033.3:c.1780+4G>A | NP_000024.2:n.1780+4G>A | |
| XR_938507.1:n.2252+4G>A | ||
| XR_938507.2:n.2252+4G>A | ||
| NM_000033.4:c.1780+4G>A MANE Select | NP_000024.2:n.1780+4G>A |