Linked Data
ClinVar Variation Id:
95187
dbSNP Id:
rs56268439
ExAC:
X:153296090 C / T
gnomAD v2:
X-153296090-C-T
gnomAD v3:
X-154030639-C-T
gnomAD v4:
X-154030639-C-T
MyVariant Identifiers:
chrX:g.153296090C>T (hg19)
chrX:g.153296090_153296118delinsTGGAGCTCTCGGGCTCAGGTGGAGGTGGG (hg19)
chrX:g.154030639C>T (hg38)
PubMed:
PMID:10577905
PMID:10991689
PMID:11055898
PMID:11738860
PMID:11738883
PMID:11896461
PMID:12111644
PMID:12384770
PMID:15578581
PMID:16763963
PMID:16879196
PMID:17383248
PMID:17427193
PMID:20479760
PMID:21160487
PMID:21954873
PMID:21982064
PMID:23262346
PMID:23810759
ERepo:
CA211306/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030639C>T , CM000685.2:g.154030639C>T | GRCh38 |
| NC_000023.10:g.153296090C>T , CM000685.1:g.153296090C>T | GRCh37 |
| NC_000023.9:g.152949284C>T | NCBI36 |
| NG_007107.2:g.111489G>A | |
| NG_007107.3:g.111465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1189G>A MANE Plus Clinical | ENSP00000301948.6:p.Glu397Lys | |
| ENST00000453960.7:c.1225G>A MANE Select | ENSP00000395535.2:p.Glu409Lys | |
| ENST00000303391.10:c.1189G>A | ENSP00000301948.6:p.Glu397Lys | |
| ENST00000407218.5:c.*561G>A | ENSP00000384865.2:n.*561G>A | |
| ENST00000453960.6:c.1225G>A | ENSP00000395535.2:p.Glu409Lys | |
| ENST00000619732.4:c.1189G>A | ENSP00000480973.1:p.Glu397Lys | |
| ENST00000628176.2:c.*561G>A | ENSP00000486978.1:n.*561G>A | |
| NM_001110792.1:c.1225G>A | NP_001104262.1:p.Glu409Lys | |
| NM_001316337.1:c.910G>A | NP_001303266.1:p.Glu304Lys | |
| NM_004992.3:c.1189G>A | NP_004983.1:p.Glu397Lys | |
| XM_005274681.3:c.1189G>A | XP_005274738.1:p.Glu397Lys | |
| XM_005274682.3:c.910G>A | XP_005274739.1:p.Glu304Lys | |
| XM_005274683.3:c.910G>A | XP_005274740.1:p.Glu304Lys | |
| XM_006724819.2:c.520G>A | XP_006724882.1:p.Glu174Lys | |
| XM_011531166.1:c.910G>A | XP_011529468.1:p.Glu304Lys | |
| XM_006724819.3:c.520G>A | XP_006724882.1:p.Glu174Lys | |
| XM_011531166.2:c.910G>A | XP_011529468.1:p.Glu304Lys | |
| XM_024452383.1:c.910G>A | XP_024308151.1:p.Glu304Lys | |
| XM_024452384.1:c.910G>A | XP_024308152.1:p.Glu304Lys | |
| NM_001110792.2:c.1225G>A MANE Select | NP_001104262.1:p.Glu409Lys | |
| NM_001316337.2:c.910G>A | NP_001303266.1:p.Glu304Lys | |
| NM_001369391.2:c.910G>A | NP_001356320.1:p.Glu304Lys | |
| NM_001369392.2:c.910G>A | NP_001356321.1:p.Glu304Lys | |
| NM_001369393.2:c.910G>A | NP_001356322.1:p.Glu304Lys | |
| NM_001369394.1:c.910G>A | NP_001356323.1:p.Glu304Lys | |
| NM_001369394.2:c.910G>A | NP_001356323.1:p.Glu304Lys | |
| NM_001386137.1:c.520G>A | NP_001373066.1:p.Glu174Lys | |
| NM_001386138.1:c.520G>A | NP_001373067.1:p.Glu174Lys | |
| NM_001386139.1:c.520G>A | NP_001373068.1:p.Glu174Lys | |
| NM_004992.4:c.1189G>A MANE Plus Clinical | NP_004983.1:p.Glu397Lys |