Linked Data
ClinVar Variation Id:
2164091
ClinVar RCV Id:
RCV003073514
gnomAD v4:
X-38381391-T-A
MyVariant Identifiers:
chrX:g.38240644T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381391T>A , CM000685.2:g.38381391T>A | GRCh38 |
| NC_000023.10:g.38240644T>A , CM000685.1:g.38240644T>A | GRCh37 |
| NC_000023.9:g.38125588T>A | NCBI36 |
| NG_008471.1:g.33909T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.348T>A MANE Select | ENSP00000039007.4:p.Ile116= | |
| ENST00000643344.1:c.*98T>A | ENSP00000496606.1:n.*98T>A | |
| ENST00000039007.4:c.348T>A | ENSP00000039007.4:p.Ile116= | |
| ENST00000465127.1:c.172-284730T>A | ENSP00000417050.1:n.172-284730T>A | |
| ENST00000488812.1:n.385T>A | ||
| NM_000531.5:c.348T>A | NP_000522.3:p.Ile116= | |
| XM_017029556.1:c.348T>A | XP_016885045.1:p.Ile116= | |
| NM_000531.6:c.348T>A MANE Select | NP_000522.3:p.Ile116= |