Linked Data
dbSNP Id:
rs1199275582
gnomAD v3:
X-48683792-G-A
gnomAD v4:
X-48683792-G-A
MyVariant Identifiers:
chrX:g.48683792G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683792G>A , CM000685.2:g.48683792G>A | GRCh38 |
| NC_000023.10:g.48542181G>A , CM000685.1:g.48542181G>A | GRCh37 |
| NC_000023.9:g.48427125G>A | NCBI36 |
| NG_007877.1:g.4996G>A , LRG_125:g.4996G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698625.1:c.-34-28G>A | ENSP00000513844.1:n.-34-28G>A | |
| ENST00000376701.4:c.-62G>A | ENSP00000365891.4:n.-62G>A | |
| ENST00000450772.5:c.-34-28G>A | ENSP00000410537.1:n.-34-28G>A | |
| XM_011543977.1:c.-62G>A | XP_011542279.1:n.-62G>A | |
| XM_011543977.2:c.-62G>A | XP_011542279.1:n.-62G>A | |
| XM_017029786.1:c.-62G>A | XP_016885275.1:n.-62G>A |