Linked Data
dbSNP Id:
rs1436480881
gnomAD v3:
X-153690345-C-T
gnomAD v4:
X-153690345-C-T
MyVariant Identifiers:
chrX:g.153690345C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690345C>T , CM000685.2:g.153690345C>T | GRCh38 |
| NC_000023.10:g.152955800C>T , CM000685.1:g.152955800C>T | GRCh37 |
| NC_000023.9:g.152608994C>T | NCBI36 |
| NG_012016.1:g.7049C>T | |
| NG_012016.2:g.7049C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.263-30C>T MANE Select | ENSP00000253122.5:n.263-30C>T | |
| ENST00000253122.9:c.263-30C>T | ENSP00000253122.5:n.263-30C>T | |
| ENST00000430077.6:c.-83-30C>T | ENSP00000403041.2:n.-83-30C>T | |
| ENST00000476466.1:n.115-30C>T | ||
| NM_001142805.1:c.263-30C>T | NP_001136277.1:n.263-30C>T | |
| NM_001142806.1:c.-83-30C>T | NP_001136278.1:n.-83-30C>T | |
| NM_005629.3:c.263-30C>T | NP_005620.1:n.263-30C>T | |
| NM_005629.4:c.263-30C>T MANE Select | NP_005620.1:n.263-30C>T | |
| NM_001142805.2:c.263-30C>T | NP_001136277.1:n.263-30C>T |