Linked Data
ClinVar Variation Id:
449698
ClinVar RCV Id:
RCV000519029
dbSNP Id:
rs1057517788
gnomAD v4:
X-22076475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22076475G>A , CM000685.2:g.22076475G>A | GRCh38 |
| NC_000023.10:g.22094593G>A , CM000685.1:g.22094593G>A | GRCh37 |
| NC_000023.9:g.22004514G>A | NCBI36 |
| NG_007563.2:g.48673G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475778.2:n.862+1G>A | ||
| ENST00000683214.1:n.545-1001G>A | ||
| ENST00000684143.1:c.436+1G>A | ENSP00000508264.1:n.436+1G>A | |
| ENST00000684745.1:n.113+1G>A | ||
| ENST00000379374.5:c.436+1G>A MANE Select | ENSP00000368682.4:n.436+1G>A | |
| ENST00000379374.4:c.436+1G>A | ENSP00000368682.4:n.436+1G>A | |
| NM_000444.5:c.436+1G>A | NP_000435.3:n.436+1G>A | |
| NM_001282754.1:c.436+1G>A | NP_001269683.1:n.436+1G>A | |
| XM_011545535.1:c.436+1G>A | XP_011543837.1:n.436+1G>A | |
| XM_017029579.1:c.-93-13954G>A | XP_016885068.1:n.-93-13954G>A | |
| XM_024452390.1:c.145+1G>A | XP_024308158.1:n.145+1G>A | |
| XR_001755695.1:n.1115+1G>A | ||
| NM_000444.6:c.436+1G>A MANE Select | NP_000435.3:n.436+1G>A | |
| NM_001282754.2:c.436+1G>A | NP_001269683.1:n.436+1G>A |