Linked Data
ClinVar Variation Id:
2185267
ClinVar RCV Id:
RCV002632450
dbSNP Id:
rs2089303537
gnomAD v4:
X-149482811-A-G
MyVariant Identifiers:
chrX:g.148564342A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482811A>G , CM000685.2:g.149482811A>G | GRCh38 |
| NC_000023.10:g.148564342A>G , CM000685.1:g.148564342A>G | GRCh37 |
| NC_000023.9:g.148372247A>G | NCBI36 |
| NG_011900.3:g.27524T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1588T>C MANE Select | ENSP00000339801.6:p.Leu530= | |
| ENST00000651111.1:c.955T>C | ENSP00000498395.1:p.Leu319= | |
| ENST00000340855.10:c.1588T>C | ENSP00000339801.6:p.Leu530= | |
| ENST00000422081.6:c.955T>C | ENSP00000477056.1:p.Leu319= | |
| NM_000202.6:c.1588T>C | NP_000193.1:p.Leu530= | |
| NM_001166550.2:c.1318T>C | NP_001160022.1:p.Leu440= | |
| NM_000202.7:c.1588T>C | NP_000193.1:p.Leu530= | |
| NM_001166550.3:c.1318T>C | NP_001160022.1:p.Leu440= | |
| NM_000202.8:c.1588T>C MANE Select | NP_000193.1:p.Leu530= | |
| NM_001166550.4:c.1318T>C | NP_001160022.1:p.Leu440= |