Linked Data
dbSNP Id:
rs1557285176
gnomAD v2:
X-154225405-G-T
gnomAD v4:
X-154997130-G-T
MyVariant Identifiers:
chrX:g.154225405G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997130G>T , CM000685.2:g.154997130G>T | GRCh38 |
| NC_000023.10:g.154225405G>T , CM000685.1:g.154225405G>T | GRCh37 |
| NC_000023.9:g.153878599G>T | NCBI36 |
| NG_011403.1:g.30594C>A | |
| NG_011403.2:g.30594C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.266-35C>A MANE Select | ENSP00000353393.4:n.266-35C>A | |
| ENST00000647125.1:c.*52-35C>A | ENSP00000496062.1:n.*52-35C>A | |
| ENST00000360256.8:c.266-35C>A | ENSP00000353393.4:n.266-35C>A | |
| ENST00000423959.5:c.161-35C>A | ENSP00000409446.1:n.161-35C>A | |
| ENST00000453950.1:c.248-35C>A | ENSP00000389153.1:n.248-35C>A | |
| NM_000132.3:c.266-35C>A | NP_000123.1:n.266-35C>A | |
| XM_011531126.1:c.161-35C>A | XP_011529428.1:n.161-35C>A | |
| NM_000132.4:c.266-35C>A MANE Select | NP_000123.1:n.266-35C>A |