Linked Data
ClinVar Variation Id:
747951
ClinVar RCV Id:
RCV000924711
dbSNP Id:
rs1602675389
gnomAD v4:
X-49248683-C-T
MyVariant Identifiers:
chrX:g.49105144C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49248683C>T , CM000685.2:g.49248683C>T | GRCh38 |
| NC_000023.10:g.49105144C>T , CM000685.1:g.49105144C>T | GRCh37 |
| NC_000023.9:g.48992088C>T | NCBI36 |
| NG_007392.1:g.21145G>A , LRG_62:g.21145G>A | |
| NG_021311.2:g.18219C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376227.4:c.1380C>T MANE Select | ENSP00000365401.3:p.Val460= | |
| ENST00000376227.3:c.1380C>T | ENSP00000365401.3:p.Val460= | |
| NM_014008.4:c.1380C>T | NP_054727.1:p.Val460= | |
| XM_005272599.2:c.1377C>T | XP_005272656.1:p.Val459= | |
| XR_430506.1:n.1478C>T | ||
| XM_005272599.4:c.1377C>T | XP_005272656.1:p.Val459= | |
| XR_430506.3:n.1491C>T | ||
| NM_014008.5:c.1380C>T MANE Select | NP_054727.1:p.Val460= |