Linked Data
ClinVar Variation Id:
287763
dbSNP Id:
rs376330042
ExAC:
X:601766 G / A
gnomAD v2:
X-601766-G-A
gnomAD v3:
X-641031-G-A
gnomAD v4:
X-641031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.641031G>A , CM000685.2:g.641031G>A | GRCh38 |
| NC_000023.10:g.601766G>A , CM000685.1:g.601766G>A | GRCh37 |
| NC_000023.9:g.521766G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686671.1:c.577G>A MANE Select | ENSP00000508521.1:p.Ala193Thr | |
| ENST00000334060.8:c.577G>A | ENSP00000335505.3:p.Ala193Thr | |
| ENST00000381575.6:c.577G>A | ENSP00000370987.1:p.Ala193Thr | |
| ENST00000381578.6:c.577G>A | ENSP00000370990.1:p.Ala193Thr | |
| ENST00000554971.6:c.577G>A | ENSP00000452016.1:p.Ala193Thr |