Linked Data
ClinVar Variation Id:
2032761
ClinVar RCV Id:
RCV002881415
MyVariant Identifiers:
chrX:g.53459264C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432316C>T , CM000685.2:g.53432316C>T | GRCh38 |
| NC_000023.10:g.53459264C>T , CM000685.1:g.53459264C>T | GRCh37 |
| NC_000023.9:g.53475989C>T | NCBI36 |
| NG_008153.1:g.7060G>A , LRG_450:g.7060G>A | |
| NG_033076.2:g.14462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.432G>A | ||
| ENST00000682365.1:n.1623G>A | ||
| ENST00000684251.1:n.132G>A | ||
| ENST00000684503.1:n.453G>A | ||
| ENST00000684692.1:c.288G>A | ENSP00000506792.1:p.Val96= | |
| ENST00000168216.11:c.288G>A MANE Select | ENSP00000168216.6:p.Val96= | |
| ENST00000168216.10:c.288G>A | ENSP00000168216.6:p.Val96= | |
| ENST00000375298.4:c.288G>A | ENSP00000364447.4:p.Val96= | |
| ENST00000375304.9:c.288G>A | ENSP00000364453.5:p.Val96= | |
| ENST00000477706.1:n.7G>A | ||
| ENST00000495986.1:n.420G>A | ||
| NM_001037811.2:c.288G>A , LRG_450t2:c.288G>A | NP_001032900.1:p.Val96= | |
| NM_004493.2:c.288G>A , LRG_450t1:c.288G>A | NP_004484.1:p.Val96= | |
| NM_004493.3:c.288G>A MANE Select | NP_004484.1:p.Val96= |