Linked Data
ClinVar Variation Id:
2980210
ClinVar RCV Id:
RCV003837384
dbSNP Id:
rs1569365820
gnomAD v2:
X-53459276-T-G
gnomAD v3:
X-53432328-T-G
gnomAD v4:
X-53432328-T-G
MyVariant Identifiers:
chrX:g.53459276T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432328T>G , CM000685.2:g.53432328T>G | GRCh38 |
| NC_000023.10:g.53459276T>G , CM000685.1:g.53459276T>G | GRCh37 |
| NC_000023.9:g.53476001T>G | NCBI36 |
| NG_008153.1:g.7048A>C , LRG_450:g.7048A>C | |
| NG_033076.2:g.14474T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.420A>C | ||
| ENST00000682365.1:n.1611A>C | ||
| ENST00000684251.1:n.120A>C | ||
| ENST00000684503.1:n.441A>C | ||
| ENST00000684692.1:c.276A>C | ENSP00000506792.1:p.Ala92= | |
| ENST00000168216.11:c.276A>C MANE Select | ENSP00000168216.6:p.Ala92= | |
| ENST00000168216.10:c.276A>C | ENSP00000168216.6:p.Ala92= | |
| ENST00000375298.4:c.276A>C | ENSP00000364447.4:p.Ala92= | |
| ENST00000375304.9:c.276A>C | ENSP00000364453.5:p.Ala92= | |
| ENST00000495986.1:n.408A>C | ||
| NM_001037811.2:c.276A>C , LRG_450t2:c.276A>C | NP_001032900.1:p.Ala92= | |
| NM_004493.2:c.276A>C , LRG_450t1:c.276A>C | NP_004484.1:p.Ala92= | |
| NM_004493.3:c.276A>C MANE Select | NP_004484.1:p.Ala92= |