Linked Data
ClinVar Variation Id:
1740453
ClinVar RCV Id:
RCV002333872
gnomAD v4:
X-25013554-T-A
MyVariant Identifiers:
chrX:g.25031671T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013554T>A , CM000685.2:g.25013554T>A | GRCh38 |
| NC_000023.10:g.25031671T>A , CM000685.1:g.25031671T>A | GRCh37 |
| NC_000023.9:g.24941592T>A | NCBI36 |
| NG_008281.1:g.7395A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.441A>T MANE Select | ENSP00000368332.4:p.Ala147= | |
| ENST00000379044.4:c.441A>T | ENSP00000368332.4:p.Ala147= | |
| NM_139058.2:c.441A>T | NP_620689.1:p.Ala147= | |
| NM_139058.3:c.441A>T MANE Select | NP_620689.1:p.Ala147= |