Linked Data
ClinVar Variation Id:
1148209
dbSNP Id:
rs1738744298
gnomAD v3:
X-149498173-C-T
gnomAD v4:
X-149498173-C-T
MyVariant Identifiers:
chrX:g.148579704C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498173C>T , CM000685.2:g.149498173C>T | GRCh38 |
| NC_000023.10:g.148579704C>T , CM000685.1:g.148579704C>T | GRCh37 |
| NC_000023.9:g.148387609C>T | NCBI36 |
| NG_011900.3:g.12162G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.642G>A MANE Select | ENSP00000339801.6:p.Thr214= | |
| ENST00000651111.1:c.9G>A | ENSP00000498395.1:p.Thr3= | |
| ENST00000340855.10:c.642G>A | ENSP00000339801.6:p.Thr214= | |
| ENST00000370441.8:c.642G>A | ENSP00000359470.4:p.Thr214= | |
| ENST00000422081.6:c.9G>A | ENSP00000477056.1:p.Thr3= | |
| ENST00000441880.1:n.114-11075G>A | ||
| ENST00000464251.5:c.568G>A | ENSP00000428980.1:n.568G>A | |
| ENST00000466019.1:n.94G>A | ||
| ENST00000466323.5:c.642G>A | ENSP00000418264.1:p.Thr214= | |
| ENST00000490775.5:n.427G>A | ||
| NM_000202.6:c.642G>A | NP_000193.1:p.Thr214= | |
| NM_001166550.2:c.372G>A | NP_001160022.1:p.Thr124= | |
| NM_006123.4:c.642G>A | NP_006114.1:p.Thr214= | |
| NR_104128.1:n.859G>A | ||
| NM_000202.7:c.642G>A | NP_000193.1:p.Thr214= | |
| NM_001166550.3:c.372G>A | NP_001160022.1:p.Thr124= | |
| NM_000202.8:c.642G>A MANE Select | NP_000193.1:p.Thr214= | |
| NM_001166550.4:c.372G>A | NP_001160022.1:p.Thr124= | |
| NM_006123.5:c.642G>A | NP_006114.1:p.Thr214= | |
| NR_104128.2:n.811G>A |