Linked Data
ClinVar Variation Id:
1623600
ClinVar RCV Id:
RCV002110176
dbSNP Id:
rs1556464456
gnomAD v2:
X-63004976-C-T
gnomAD v3:
X-63785096-C-T
gnomAD v4:
X-63785096-C-T
MyVariant Identifiers:
chrX:g.63004976C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785096C>T , CM000685.2:g.63785096C>T | GRCh38 |
| NC_000023.10:g.63004976C>T , CM000685.1:g.63004976C>T | GRCh37 |
| NC_000023.9:g.62921701C>T | NCBI36 |
| NG_016975.1:g.5451G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000671741.2:c.30+20G>A MANE Select | ENSP00000500715.1:n.30+20G>A | |
| ENST00000672467.1:n.99+20G>A | ||
| ENST00000374878.5:c.30+20G>A | ENSP00000364012.2:n.30+20G>A | |
| ENST00000437457.6:c.30+20G>A | ENSP00000399994.3:n.30+20G>A | |
| ENST00000623417.3:c.-118+10420G>A | ENSP00000485083.1:n.-118+10420G>A | |
| ENST00000623517.3:c.30+20G>A | ENSP00000485369.1:n.30+20G>A | |
| ENST00000624355.1:c.-132+20G>A | ENSP00000485327.1:n.-132+20G>A | |
| ENST00000625116.3:c.-195+20G>A | ENSP00000485160.1:n.-195+20G>A | |
| NM_001173479.1:c.30+20G>A | NP_001166950.1:n.30+20G>A | |
| XM_005262249.1:c.30+20G>A | XP_005262306.1:n.30+20G>A | |
| XM_005262252.1:c.-132+20G>A | XP_005262309.1:n.-132+20G>A | |
| NM_001330495.1:c.-132+20G>A | NP_001317424.1:n.-132+20G>A | |
| NM_001353921.1:c.30+20G>A | NP_001340850.1:n.30+20G>A | |
| NM_001353922.1:c.30+20G>A | NP_001340851.1:n.30+20G>A | |
| XM_017029378.2:c.30+20G>A | XP_016884867.1:n.30+20G>A | |
| XM_024452358.1:c.-132+20G>A | XP_024308126.1:n.-132+20G>A | |
| NM_001173479.2:c.30+20G>A | NP_001166950.1:n.30+20G>A | |
| NM_001330495.2:c.-132+20G>A | NP_001317424.1:n.-132+20G>A | |
| NM_001353921.2:c.30+20G>A MANE Select | NP_001340850.1:n.30+20G>A | |
| NM_001353922.2:c.30+20G>A | NP_001340851.1:n.30+20G>A | |
| NM_001369043.1:c.-132+20G>A | NP_001355972.1:n.-132+20G>A |