Linked Data
dbSNP Id:
rs1556977608
gnomAD v2:
X-48385689-T-A
gnomAD v4:
X-48527301-T-A
MyVariant Identifiers:
chrX:g.48385689T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527301T>A , CM000685.2:g.48527301T>A | GRCh38 |
| NC_000023.10:g.48385689T>A , CM000685.1:g.48385689T>A | GRCh37 |
| NC_000023.9:g.48270633T>A | NCBI36 |
| NG_007452.1:g.10526T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.469+16T>A MANE Select | ENSP00000417052.1:n.469+16T>A | |
| ENST00000651615.1:c.469+16T>A | ENSP00000498524.1:n.469+16T>A | |
| ENST00000276096.10:n.427+16T>A | ||
| ENST00000446158.5:c.469+16T>A | ENSP00000390031.1:n.469+16T>A | |
| ENST00000466461.1:n.324T>A | ||
| ENST00000495186.5:c.469+16T>A | ENSP00000417052.1:n.469+16T>A | |
| ENST00000498425.1:n.590+16T>A | ||
| NM_006579.2:c.469+16T>A | NP_006570.1:n.469+16T>A | |
| NM_006579.3:c.469+16T>A MANE Select | NP_006570.1:n.469+16T>A |