Linked Data
ClinVar Variation Id:
2935408
ClinVar RCV Id:
RCV003791062
dbSNP Id:
rs1928118214
gnomAD v3:
X-139561813-T-G
gnomAD v4:
X-139561813-T-G
MyVariant Identifiers:
chrX:g.138643972T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561813T>G , CM000685.2:g.139561813T>G | GRCh38 |
| NC_000023.10:g.138643972T>G , CM000685.1:g.138643972T>G | GRCh37 |
| NC_000023.9:g.138471638T>G | NCBI36 |
| NG_007994.1:g.36078T>G , LRG_556:g.36078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1128T>G MANE Select | ENSP00000218099.2:p.Leu376= | |
| ENST00000643157.1:n.1723+72T>G | ||
| ENST00000218099.6:c.1128T>G | ENSP00000218099.2:p.Leu376= | |
| ENST00000394090.2:c.1014T>G | ENSP00000377650.2:p.Leu338= | |
| NM_000133.3:c.1128T>G , LRG_556t1:c.1128T>G | NP_000124.1:p.Leu376= | |
| NM_001313913.1:c.1014T>G | NP_001300842.1:p.Leu338= | |
| XM_005262397.3:c.999T>G | XP_005262454.1:p.Leu333= | |
| XM_005262397.4:c.999T>G | XP_005262454.1:p.Leu333= | |
| NM_000133.4:c.1128T>G MANE Select | NP_000124.1:p.Leu376= | |
| NM_001313913.2:c.1014T>G | NP_001300842.1:p.Leu338= |