Linked Data
ClinVar Variation Id:
2948462
ClinVar RCV Id:
RCV003809236
dbSNP Id:
rs782061167
ExAC:
X:48545347 G / A
gnomAD v2:
X-48545347-G-A
gnomAD v4:
X-48686958-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48686958G>A , CM000685.2:g.48686958G>A | GRCh38 |
| NC_000023.10:g.48545347G>A , CM000685.1:g.48545347G>A | GRCh37 |
| NC_000023.9:g.48430291G>A | NCBI36 |
| NG_007877.1:g.8162G>A , LRG_125:g.8162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.767+3G>A | ||
| ENST00000490627.2:n.171+824G>A | ||
| ENST00000698625.1:c.734+3G>A | ENSP00000513844.1:n.734+3G>A | |
| ENST00000698626.1:c.734+3G>A | ENSP00000513845.1:n.734+3G>A | |
| ENST00000698635.1:c.734+3G>A | ENSP00000513850.1:n.734+3G>A | |
| ENST00000376701.5:c.734+3G>A MANE Select | ENSP00000365891.4:n.734+3G>A | |
| ENST00000376701.4:c.734+3G>A | ENSP00000365891.4:n.734+3G>A | |
| ENST00000465982.5:n.634+3G>A | ||
| ENST00000483750.5:n.760+3G>A | ||
| ENST00000490627.1:n.154+824G>A | ||
| NM_000377.2:c.734+3G>A , LRG_125t1:c.734+3G>A | NP_000368.1:n.734+3G>A | |
| XM_011543977.1:c.734+3G>A | XP_011542279.1:n.734+3G>A | |
| XM_011543977.2:c.734+3G>A | XP_011542279.1:n.734+3G>A | |
| XM_017029786.1:c.734+3G>A | XP_016885275.1:n.734+3G>A | |
| NM_000377.3:c.734+3G>A MANE Select | NP_000368.1:n.734+3G>A |