Linked Data
ClinVar Variation Id:
1111117
ClinVar RCV Id:
RCV001437560
dbSNP Id:
rs2148360178
gnomAD v4:
X-153690502-C-T
MyVariant Identifiers:
chrX:g.152955957C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690502C>T , CM000685.2:g.153690502C>T | GRCh38 |
| NC_000023.10:g.152955957C>T , CM000685.1:g.152955957C>T | GRCh37 |
| NC_000023.9:g.152609151C>T | NCBI36 |
| NG_012016.1:g.7206C>T | |
| NG_012016.2:g.7206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.390C>T MANE Select | ENSP00000253122.5:p.Phe130= | |
| ENST00000675713.1:n.144C>T | ||
| ENST00000253122.9:c.390C>T | ENSP00000253122.5:p.Phe130= | |
| ENST00000430077.6:c.45C>T | ENSP00000403041.2:p.Phe15= | |
| ENST00000476466.1:n.242C>T | ||
| NM_001142805.1:c.390C>T | NP_001136277.1:p.Phe130= | |
| NM_001142806.1:c.45C>T | NP_001136278.1:p.Phe15= | |
| NM_005629.3:c.390C>T | NP_005620.1:p.Phe130= | |
| NM_005629.4:c.390C>T MANE Select | NP_005620.1:p.Phe130= | |
| NM_001142805.2:c.390C>T | NP_001136277.1:p.Phe130= |