Linked Data
dbSNP Id:
rs1556890170
gnomAD v2:
X-53436217-C-T
gnomAD v4:
X-53409286-C-T
MyVariant Identifiers:
chrX:g.53436217C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53409286C>T , CM000685.2:g.53409286C>T | GRCh38 |
| NC_000023.10:g.53436217C>T , CM000685.1:g.53436217C>T | GRCh37 |
| NC_000023.9:g.53452942C>T | NCBI36 |
| NG_006988.2:g.18385G>A , LRG_773:g.18385G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1338-17G>A MANE Select | ENSP00000323421.3:n.1338-17G>A | |
| ENST00000674590.1:c.570-17G>A | ENSP00000502626.1:n.570-17G>A | |
| ENST00000675065.1:n.690-17G>A | ||
| ENST00000675504.1:c.1272-17G>A | ENSP00000502524.1:n.1272-17G>A | |
| ENST00000322213.8:c.1338-17G>A | ENSP00000323421.3:n.1338-17G>A | |
| ENST00000375340.10:c.1272-17G>A | ENSP00000364489.7:n.1272-17G>A | |
| NM_001281463.1:c.1272-17G>A , LRG_773t1:c.1272-17G>A | NP_001268392.1:n.1272-17G>A | |
| NM_006306.3:c.1338-17G>A , LRG_773t2:c.1338-17G>A | NP_006297.2:n.1338-17G>A | |
| NM_006306.4:c.1338-17G>A MANE Select | NP_006297.2:n.1338-17G>A |