Linked Data
ClinVar Variation Id:
766100
ClinVar RCV Id:
RCV000944596
dbSNP Id:
rs782203657
gnomAD v4:
X-149483106-C-T
MyVariant Identifiers:
chrX:g.148564637C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483106C>T , CM000685.2:g.149483106C>T | GRCh38 |
| NC_000023.10:g.148564637C>T , CM000685.1:g.148564637C>T | GRCh37 |
| NC_000023.9:g.148372542C>T | NCBI36 |
| NG_011900.3:g.27229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1293G>A MANE Select | ENSP00000339801.6:p.Leu431= | |
| ENST00000651111.1:c.660G>A | ENSP00000498395.1:p.Leu220= | |
| ENST00000340855.10:c.1293G>A | ENSP00000339801.6:p.Leu431= | |
| ENST00000422081.6:c.660G>A | ENSP00000477056.1:p.Leu220= | |
| ENST00000441880.1:n.400G>A | ||
| NM_000202.6:c.1293G>A | NP_000193.1:p.Leu431= | |
| NM_001166550.2:c.1023G>A | NP_001160022.1:p.Leu341= | |
| NM_000202.7:c.1293G>A | NP_000193.1:p.Leu431= | |
| NM_001166550.3:c.1023G>A | NP_001160022.1:p.Leu341= | |
| NM_000202.8:c.1293G>A MANE Select | NP_000193.1:p.Leu431= | |
| NM_001166550.4:c.1023G>A | NP_001160022.1:p.Leu341= |