Linked Data
ClinVar Variation Id:
1578142
ClinVar RCV Id:
RCV002081330
dbSNP Id:
rs1557340398
gnomAD v2:
X-148585729-T-C
gnomAD v4:
X-149504199-T-C
MyVariant Identifiers:
chrX:g.148585729T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149504199T>C , CM000685.2:g.149504199T>C | GRCh38 |
| NC_000023.10:g.148585729T>C , CM000685.1:g.148585729T>C | GRCh37 |
| NC_000023.9:g.148393633T>C | NCBI36 |
| NG_011900.3:g.6136A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.198A>G MANE Select | ENSP00000339801.6:p.Gln66= | |
| ENST00000651111.1:c.-215-3162A>G | ENSP00000498395.1:n.-215-3162A>G | |
| ENST00000340855.10:c.198A>G | ENSP00000339801.6:p.Gln66= | |
| ENST00000370441.8:c.198A>G | ENSP00000359470.4:p.Gln66= | |
| ENST00000422081.6:c.-215-3162A>G | ENSP00000477056.1:n.-215-3162A>G | |
| ENST00000427113.2:n.770-1976A>G | ||
| ENST00000428056.6:c.198A>G | ENSP00000390241.2:p.Gln66= | |
| ENST00000441880.1:n.114-17101A>G | ||
| ENST00000464251.5:c.21A>G | ENSP00000428980.1:p.Gln7= | |
| ENST00000466323.5:c.198A>G | ENSP00000418264.1:p.Gln66= | |
| ENST00000521702.1:c.198A>G | ENSP00000429745.1:p.Gln66= | |
| ENST00000523759.5:n.533-3162A>G | ||
| NM_000202.6:c.198A>G | NP_000193.1:p.Gln66= | |
| NM_001166550.2:c.-29A>G | NP_001160022.1:n.-29A>G | |
| NM_006123.4:c.198A>G | NP_006114.1:p.Gln66= | |
| NR_104128.1:n.415A>G | ||
| NM_000202.7:c.198A>G | NP_000193.1:p.Gln66= | |
| NM_001166550.3:c.-29A>G | NP_001160022.1:n.-29A>G | |
| NM_000202.8:c.198A>G MANE Select | NP_000193.1:p.Gln66= | |
| NM_001166550.4:c.-29A>G | NP_001160022.1:n.-29A>G | |
| NM_006123.5:c.198A>G | NP_006114.1:p.Gln66= | |
| NR_104128.2:n.367A>G |