Linked Data
ClinVar Variation Id:
2802537
ClinVar RCV Id:
RCV003668892
dbSNP Id:
rs1924903665
gnomAD v3:
X-46853739-T-C
gnomAD v4:
X-46853739-T-C
MyVariant Identifiers:
chrX:g.46713174T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853739T>C , CM000685.2:g.46853739T>C | GRCh38 |
| NC_000023.10:g.46713174T>C , CM000685.1:g.46713174T>C | GRCh37 |
| NC_000023.9:g.46598118T>C | NCBI36 |
| NG_009107.1:g.21828T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218340.4:c.366T>C MANE Select | ENSP00000218340.3:p.Cys122= | |
| ENST00000218340.3:c.366T>C | ENSP00000218340.3:p.Cys122= | |
| NM_006915.2:c.366T>C | NP_008846.2:p.Cys122= | |
| NM_006915.3:c.366T>C MANE Select | NP_008846.2:p.Cys122= |