Linked Data
ClinVar Variation Id:
1107067
ClinVar RCV Id:
RCV001432048
dbSNP Id:
rs2124648280
gnomAD v4:
X-149482815-G-A
MyVariant Identifiers:
chrX:g.148564346G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482815G>A , CM000685.2:g.149482815G>A | GRCh38 |
| NC_000023.10:g.148564346G>A , CM000685.1:g.148564346G>A | GRCh37 |
| NC_000023.9:g.148372251G>A | NCBI36 |
| NG_011900.3:g.27520C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1584C>T MANE Select | ENSP00000339801.6:p.Asp528= | |
| ENST00000651111.1:c.951C>T | ENSP00000498395.1:p.Asp317= | |
| ENST00000340855.10:c.1584C>T | ENSP00000339801.6:p.Asp528= | |
| ENST00000422081.6:c.951C>T | ENSP00000477056.1:p.Asp317= | |
| NM_000202.6:c.1584C>T | NP_000193.1:p.Asp528= | |
| NM_001166550.2:c.1314C>T | NP_001160022.1:p.Asp438= | |
| NM_000202.7:c.1584C>T | NP_000193.1:p.Asp528= | |
| NM_001166550.3:c.1314C>T | NP_001160022.1:p.Asp438= | |
| NM_000202.8:c.1584C>T MANE Select | NP_000193.1:p.Asp528= | |
| NM_001166550.4:c.1314C>T | NP_001160022.1:p.Asp438= |