Linked Data
dbSNP Id:
rs1557054194
gnomAD v2:
X-153001747-T-C
gnomAD v4:
X-153736293-T-C
MyVariant Identifiers:
chrX:g.153001747T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736293T>C , CM000685.2:g.153736293T>C | GRCh38 |
| NC_000023.10:g.153001747T>C , CM000685.1:g.153001747T>C | GRCh37 |
| NC_000023.9:g.152654941T>C | NCBI36 |
| NG_009022.2:g.16426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1224+39T>C MANE Select | ENSP00000218104.3:n.1224+39T>C | |
| ENST00000218104.5:c.1224+39T>C | ENSP00000218104.3:n.1224+39T>C | |
| ENST00000443684.2:n.227+39T>C | ||
| NM_000033.3:c.1224+39T>C | NP_000024.2:n.1224+39T>C | |
| XR_938507.1:n.1640+39T>C | ||
| XR_938507.2:n.1640+39T>C | ||
| NM_000033.4:c.1224+39T>C MANE Select | NP_000024.2:n.1224+39T>C |