Linked Data
dbSNP Id:
rs1557026060
gnomAD v2:
X-152858078-C-T
gnomAD v3:
X-153592620-C-T
gnomAD v4:
X-153592620-C-T
MyVariant Identifiers:
chrX:g.152858078C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592620C>T , CM000685.2:g.153592620C>T | GRCh38 |
| NC_000023.10:g.152858078C>T , CM000685.1:g.152858078C>T | GRCh37 |
| NC_000023.9:g.152511272C>T | NCBI36 |
| NG_008393.2:g.11558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.543G>A MANE Select | ENSP00000461135.1:p.Ala181= | |
| ENST00000429336.5:c.193+1927G>A | ||
| ENST00000440428.5:c.543G>A | ENSP00000402949.2:p.Ala181= | |
| ENST00000482182.3:c.417G>A | ENSP00000466345.1:p.Ala139= | |
| ENST00000576892.7:c.543G>A | ENSP00000461135.1:p.Ala181= | |
| ENST00000614850.1:c.277+3384G>A | ||
| ENST00000614851.4:c.364G>A | ||
| ENST00000620088.4:c.*419G>A | ENSP00000484108.1:n.*419G>A | |
| ENST00000621629.4:c.*419G>A | ENSP00000478747.1:n.*419G>A | |
| ENST00000621817.1:c.*708G>A | ENSP00000481634.1:n.*708G>A | |
| NM_001130997.2:c.543G>A | NP_001124469.1:p.Ala181= | |
| NM_152274.4:c.543G>A | NP_689487.2:p.Ala181= | |
| XM_005277920.3:c.513G>A | XP_005277977.1:p.Ala171= | |
| XM_005277921.3:c.513G>A | XP_005277978.1:p.Ala171= | |
| XM_011531213.1:c.417G>A | XP_011529515.1:p.Ala139= | |
| XM_011531214.1:c.417G>A | XP_011529516.1:p.Ala139= | |
| XM_011531215.1:c.417G>A | XP_011529517.1:p.Ala139= | |
| XM_005277920.4:c.513G>A | XP_005277977.1:p.Ala171= | |
| XM_005277921.4:c.513G>A | XP_005277978.1:p.Ala171= | |
| XM_011531214.2:c.417G>A | XP_011529516.1:p.Ala139= | |
| XM_011531215.2:c.417G>A | XP_011529517.1:p.Ala139= | |
| XR_002958810.1:n.2448G>A | ||
| NM_152274.5:c.543G>A MANE Select | NP_689487.2:p.Ala181= | |
| NM_001130997.3:c.543G>A | NP_001124469.1:p.Ala181= |