Linked Data
ClinVar Variation Id:
419739
ClinVar RCV Id:
RCV000483001
dbSNP Id:
rs1064794076
gnomAD v4:
X-48684424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48684424G>A , CM000685.2:g.48684424G>A | GRCh38 |
| NC_000023.10:g.48542813G>A , CM000685.1:g.48542813G>A | GRCh37 |
| NC_000023.9:g.48427757G>A | NCBI36 |
| NG_007877.1:g.5628G>A , LRG_125:g.5628G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000483750.6:n.306+1G>A | ||
| ENST00000698625.1:c.273+1G>A | ENSP00000513844.1:n.273+1G>A | |
| ENST00000698626.1:c.273+1G>A | ENSP00000513845.1:n.273+1G>A | |
| ENST00000698635.1:c.273+1G>A | ENSP00000513850.1:n.273+1G>A | |
| ENST00000376701.5:c.273+1G>A MANE Select | ENSP00000365891.4:n.273+1G>A | |
| ENST00000376701.4:c.273+1G>A | ENSP00000365891.4:n.273+1G>A | |
| ENST00000450772.5:c.273+1G>A | ENSP00000410537.1:n.273+1G>A | |
| ENST00000465982.5:n.308+1G>A | ||
| ENST00000483750.5:n.299+1G>A | ||
| NM_000377.2:c.273+1G>A , LRG_125t1:c.273+1G>A | NP_000368.1:n.273+1G>A | |
| XM_011543977.1:c.273+1G>A | XP_011542279.1:n.273+1G>A | |
| XM_011543977.2:c.273+1G>A | XP_011542279.1:n.273+1G>A | |
| XM_017029786.1:c.273+1G>A | XP_016885275.1:n.273+1G>A | |
| NM_000377.3:c.273+1G>A MANE Select | NP_000368.1:n.273+1G>A |