Linked Data
dbSNP Id:
rs1173914716
gnomAD v4:
X-153736305-T-C
MyVariant Identifiers:
chrX:g.153736305T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736305T>C , CM000685.2:g.153736305T>C | GRCh38 |
| NC_000023.10:g.153001759T>C , CM000685.1:g.153001759T>C | GRCh37 |
| NC_000023.9:g.152654953T>C | NCBI36 |
| NG_009022.2:g.16438T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1225-40T>C MANE Select | ENSP00000218104.3:n.1225-40T>C | |
| ENST00000218104.5:c.1225-40T>C | ENSP00000218104.3:n.1225-40T>C | |
| ENST00000443684.2:n.228-40T>C | ||
| NM_000033.3:c.1225-40T>C | NP_000024.2:n.1225-40T>C | |
| XR_938507.1:n.1641-40T>C | ||
| XR_938507.2:n.1641-40T>C | ||
| NM_000033.4:c.1225-40T>C MANE Select | NP_000024.2:n.1225-40T>C |