Linked Data
dbSNP Id:
rs1456338339
gnomAD v4:
X-149500858-C-T
MyVariant Identifiers:
chrX:g.149500858C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149500858C>T , CM000685.2:g.149500858C>T | GRCh38 |
| NC_000023.10:g.148582389C>T , CM000685.1:g.148582389C>T | GRCh37 |
| NC_000023.9:g.148390294C>T | NCBI36 |
| NG_011900.3:g.9477G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.507+91G>A MANE Select | ENSP00000339801.6:n.507+91G>A | |
| ENST00000651111.1:c.-127+91G>A | ENSP00000498395.1:n.-127+91G>A | |
| ENST00000340855.10:c.507+91G>A | ENSP00000339801.6:n.507+91G>A | |
| ENST00000370441.8:c.507+91G>A | ENSP00000359470.4:n.507+91G>A | |
| ENST00000422081.6:c.-127+91G>A | ENSP00000477056.1:n.-127+91G>A | |
| ENST00000441880.1:n.114-13760G>A | ||
| ENST00000464251.5:c.433+91G>A | ENSP00000428980.1:n.433+91G>A | |
| ENST00000466323.5:c.507+91G>A | ENSP00000418264.1:n.507+91G>A | |
| ENST00000490775.5:n.166+91G>A | ||
| ENST00000523759.5:n.621+91G>A | ||
| NM_000202.6:c.507+91G>A | NP_000193.1:n.507+91G>A | |
| NM_001166550.2:c.237+91G>A | NP_001160022.1:n.237+91G>A | |
| NM_006123.4:c.507+91G>A | NP_006114.1:n.507+91G>A | |
| NR_104128.1:n.724+91G>A | ||
| NM_000202.7:c.507+91G>A | NP_000193.1:n.507+91G>A | |
| NM_001166550.3:c.237+91G>A | NP_001160022.1:n.237+91G>A | |
| NM_000202.8:c.507+91G>A MANE Select | NP_000193.1:n.507+91G>A | |
| NM_001166550.4:c.237+91G>A | NP_001160022.1:n.237+91G>A | |
| NM_006123.5:c.507+91G>A | NP_006114.1:n.507+91G>A | |
| NR_104128.2:n.676+91G>A |