Linked Data
ClinVar Variation Id:
1656444
ClinVar RCV Id:
RCV002161787
dbSNP Id:
rs1555976398
gnomAD v2:
X-100603587-G-A
gnomAD v4:
X-101348599-G-A
MyVariant Identifiers:
chrX:g.100603587G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348599G>A , CM000685.2:g.101348599G>A | GRCh38 |
| NC_000023.10:g.100603587G>A , CM000685.1:g.100603587G>A | GRCh37 |
| NC_000023.9:g.100490243G>A | NCBI36 |
| NG_009616.1:g.42626C>T , LRG_128:g.42626C>T | |
| NG_011734.1:g.5371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.66C>T MANE Select | ENSP00000361993.3:p.Phe22= | |
| ENST00000644112.2:c.66C>T | ENSP00000494385.1:p.Phe22= | |
| ENST00000645279.1:c.66C>T | ENSP00000494239.1:p.Phe22= | |
| ENST00000372902.3:c.66C>T | ENSP00000361993.3:p.Phe22= | |
| ENST00000480575.1:n.151C>T | ||
| NM_001145951.1:c.66C>T | NP_001139423.1:p.Phe22= | |
| NM_004085.3:c.66C>T | NP_004076.1:p.Phe22= | |
| NM_004085.4:c.66C>T MANE Select | NP_004076.1:p.Phe22= | |
| NM_001145951.2:c.66C>T | NP_001139423.1:p.Phe22= |