Linked Data
ClinVar Variation Id:
2750823
ClinVar RCV Id:
RCV003531173
gnomAD v4:
X-154773159-C-A
MyVariant Identifiers:
chrX:g.154001434C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773159C>A , CM000685.2:g.154773159C>A | GRCh38 |
| NC_000023.10:g.154001434C>A , CM000685.1:g.154001434C>A | GRCh37 |
| NC_000023.9:g.153654628C>A | NCBI36 |
| NG_009780.1:g.15404C>A , LRG_55:g.15404C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.945C>A | ENSP00000400542.2:p.Ile315= | |
| ENST00000426673.6:c.*448C>A | ENSP00000407253.3:n.*448C>A | |
| ENST00000484317.6:n.850C>A | ||
| ENST00000696575.1:c.1065C>A | ENSP00000512730.1:p.Ile355= | |
| ENST00000696577.1:c.1065C>A | ENSP00000512731.1:p.Ile355= | |
| ENST00000696578.1:c.*17C>A | ENSP00000512732.1:n.*17C>A | |
| ENST00000696579.1:n.1167C>A | ||
| ENST00000696580.1:c.978C>A | ENSP00000512733.1:p.Ile326= | |
| ENST00000696581.1:c.*1039C>A | ENSP00000512734.1:n.*1039C>A | |
| ENST00000696582.1:c.*271C>A | ENSP00000512735.1:n.*271C>A | |
| ENST00000696583.1:c.1026C>A | ENSP00000512736.1:p.Ile342= | |
| ENST00000696584.1:n.1589C>A | ||
| ENST00000696585.1:n.1708C>A | ||
| ENST00000696586.1:n.1482C>A | ||
| ENST00000696587.1:c.945C>A | ENSP00000512737.1:p.Ile315= | |
| ENST00000696588.1:c.456C>A | ENSP00000513251.1:p.Ile152= | |
| ENST00000696589.1:n.840C>A | ||
| ENST00000696590.1:n.689C>A | ||
| ENST00000696591.1:n.414C>A | ||
| ENST00000696592.1:n.1944C>A | ||
| ENST00000696627.1:c.1065C>A | ENSP00000512764.1:p.Ile355= | |
| ENST00000696628.1:c.1065C>A | ENSP00000512765.1:p.Ile355= | |
| ENST00000369550.10:c.1065C>A MANE Select | ENSP00000358563.5:p.Ile355= | |
| ENST00000369550.9:c.1065C>A | ENSP00000358563.5:p.Ile355= | |
| ENST00000412124.5:c.323C>A | ||
| ENST00000426673.5:c.425C>A | ||
| ENST00000475966.1:n.554C>A | ||
| ENST00000481062.1:n.16C>A | ||
| ENST00000620277.4:c.1065C>A | ENSP00000478387.1:p.Ile355= | |
| NM_001142463.2:c.1065C>A | NP_001135935.1:p.Ile355= | |
| NM_001288747.1:c.1065C>A | NP_001275676.1:p.Ile355= | |
| NM_001363.4:c.1065C>A | NP_001354.1:p.Ile355= | |
| NR_110021.1:n.1766C>A | ||
| NR_110022.1:n.1885C>A | ||
| NR_110023.1:n.1659C>A | ||
| NM_001363.5:c.1065C>A MANE Select | NP_001354.1:p.Ile355= | |
| NM_001142463.3:c.1065C>A | NP_001135935.1:p.Ile355= | |
| NR_110021.2:n.1644C>A | ||
| NR_110022.2:n.1763C>A | ||
| NR_110023.2:n.1537C>A | ||
| NM_001288747.2:c.1065C>A | NP_001275676.1:p.Ile355= |