Linked Data
ClinVar Variation Id:
1108191
ClinVar RCV Id:
RCV001433560
dbSNP Id:
rs1928133934
gnomAD v3:
X-139562050-G-A
gnomAD v4:
X-139562050-G-A
COSMIC:
COSM4107042
MyVariant Identifiers:
chrX:g.138644209G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562050G>A , CM000685.2:g.139562050G>A | GRCh38 |
| NC_000023.10:g.138644209G>A , CM000685.1:g.138644209G>A | GRCh37 |
| NC_000023.9:g.138471875G>A | NCBI36 |
| NG_007994.1:g.36315G>A , LRG_556:g.36315G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.1365G>A MANE Select | ENSP00000218099.2:p.Lys455= | |
| ENST00000643157.1:n.1723+309G>A | ||
| ENST00000218099.6:c.1365G>A | ENSP00000218099.2:p.Lys455= | |
| ENST00000394090.2:c.1251G>A | ENSP00000377650.2:p.Lys417= | |
| NM_000133.3:c.1365G>A , LRG_556t1:c.1365G>A | NP_000124.1:p.Lys455= | |
| NM_001313913.1:c.1251G>A | NP_001300842.1:p.Lys417= | |
| XM_005262397.3:c.1236G>A | XP_005262454.1:p.Lys412= | |
| XM_005262397.4:c.1236G>A | XP_005262454.1:p.Lys412= | |
| NM_000133.4:c.1365G>A MANE Select | NP_000124.1:p.Lys455= | |
| NM_001313913.2:c.1251G>A | NP_001300842.1:p.Lys417= |