Linked Data
ClinVar Variation Id:
2946569
ClinVar RCV Id:
RCV003808807
gnomAD v4:
X-134460335-C-G
MyVariant Identifiers:
chrX:g.133594365C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134460335C>G , CM000685.2:g.134460335C>G | GRCh38 |
| NC_000023.10:g.133594365C>G , CM000685.1:g.133594365C>G | GRCh37 |
| NC_000023.9:g.133422031C>G | NCBI36 |
| NG_012329.1:g.5191C>G | |
| NG_012329.2:g.5191C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.24C>G MANE Select | ENSP00000298556.7:p.Val8= | |
| ENST00000298556.7:c.24C>G | ENSP00000298556.7:p.Val8= | |
| NM_000194.2:c.24C>G | NP_000185.1:p.Val8= | |
| XM_011531328.1:c.45+6436C>G | XP_011529630.1:n.45+6436C>G | |
| NM_000194.3:c.24C>G MANE Select | NP_000185.1:p.Val8= |