Linked Data
ClinVar Variation Id:
1130440
dbSNP Id:
rs2124480310
gnomAD v4:
X-133753827-G-A
MyVariant Identifiers:
chrX:g.132887854G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133753827G>A , CM000685.2:g.133753827G>A | GRCh38 |
| NC_000023.10:g.132887854G>A , CM000685.1:g.132887854G>A | GRCh37 |
| NC_000023.9:g.132715520G>A | NCBI36 |
| NG_009286.1:g.236813C>T , LRG_505:g.236813C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684880.1:c.*275C>T | ENSP00000510280.1:n.*275C>T | |
| ENST00000689310.1:c.639C>T | ENSP00000510438.1:p.Phe213= | |
| ENST00000370818.8:c.687C>T MANE Select | ENSP00000359854.3:p.Phe229= | |
| ENST00000394299.7:c.687C>T | ENSP00000377836.2:p.Phe229= | |
| ENST00000370818.7:c.687C>T | ENSP00000359854.3:p.Phe229= | |
| ENST00000394299.6:c.687C>T | ENSP00000377836.2:p.Phe229= | |
| ENST00000631057.2:c.525C>T | ENSP00000486325.1:p.Phe175= | |
| NM_001164617.1:c.687C>T | NP_001158089.1:p.Phe229= | |
| NM_001164618.1:c.639C>T | NP_001158090.1:p.Phe213= | |
| NM_001164619.1:c.525C>T | NP_001158091.1:p.Phe175= | |
| NM_004484.3:c.687C>T , LRG_505t1:c.687C>T | NP_004475.1:p.Phe229= | |
| XM_017029413.2:c.687C>T | XP_016884902.1:p.Phe229= | |
| NM_001164617.2:c.687C>T | NP_001158089.1:p.Phe229= | |
| NM_001164618.2:c.639C>T | NP_001158090.1:p.Phe213= | |
| NM_001164619.2:c.525C>T | NP_001158091.1:p.Phe175= | |
| NM_004484.4:c.687C>T MANE Select | NP_004475.1:p.Phe229= |