Linked Data
ClinVar Variation Id:
2027302
ClinVar RCV Id:
RCV002866556
gnomAD v4:
X-38408971-A-G
MyVariant Identifiers:
chrX:g.38268224A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408971A>G , CM000685.2:g.38408971A>G | GRCh38 |
| NC_000023.10:g.38268224A>G , CM000685.1:g.38268224A>G | GRCh37 |
| NC_000023.9:g.38153168A>G | NCBI36 |
| NG_008471.1:g.61489A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.813A>G MANE Select | ENSP00000039007.4:p.Glu271= | |
| ENST00000643344.1:c.*563A>G | ENSP00000496606.1:n.*563A>G | |
| ENST00000039007.4:c.813A>G | ENSP00000039007.4:p.Glu271= | |
| ENST00000465127.1:c.172-257150A>G | ENSP00000417050.1:n.172-257150A>G | |
| NM_000531.5:c.813A>G | NP_000522.3:p.Glu271= | |
| XM_017029556.1:c.813A>G | XP_016885045.1:p.Glu271= | |
| NM_000531.6:c.813A>G MANE Select | NP_000522.3:p.Glu271= |