Linked Data
dbSNP Id:
rs1557280284
gnomAD v2:
X-50658851-C-T
gnomAD v4:
X-50915851-C-T
MyVariant Identifiers:
chrX:g.50658851C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915851C>T , CM000685.2:g.50915851C>T | GRCh38 |
| NC_000023.10:g.50658851C>T , CM000685.1:g.50658851C>T | GRCh37 |
| NC_000023.9:g.50675591C>T | NCBI36 |
| NG_012894.1:g.10068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.423C>T MANE Select | ENSP00000252677.3:p.Leu141= | |
| ENST00000252677.3:c.423C>T | ENSP00000252677.3:p.Leu141= | |
| NM_005448.2:c.423C>T MANE Select | NP_005439.2:p.Leu141= |