Linked Data
ClinVar Variation Id:
2755118
ClinVar RCV Id:
RCV003510014
dbSNP Id:
rs372462475
gnomAD v3:
X-37780083-G-A
gnomAD v4:
X-37780083-G-A
MyVariant Identifiers:
chrX:g.37639336G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37780083G>A , CM000685.2:g.37780083G>A | GRCh38 |
| NC_000023.10:g.37639336G>A , CM000685.1:g.37639336G>A | GRCh37 |
| NC_000023.9:g.37524280G>A | NCBI36 |
| NG_009065.1:g.5067G>A , LRG_53:g.5067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.6G>A | ENSP00000512461.1:p.Gly2= | |
| ENST00000696171.1:c.6G>A | ENSP00000512462.1:p.Gly2= | |
| ENST00000696172.1:c.6G>A | ENSP00000512463.1:p.Gly2= | |
| ENST00000696173.1:n.14G>A | ||
| ENST00000378588.5:c.6G>A MANE Select | ENSP00000367851.4:p.Gly2= | |
| ENST00000378588.4:c.6G>A | ENSP00000367851.4:p.Gly2= | |
| ENST00000465127.1:c.171+354083G>A | ENSP00000417050.1:n.171+354083G>A | |
| NM_000397.3:c.6G>A , LRG_53t1:c.6G>A | NP_000388.2:p.Gly2= | |
| NM_000397.4:c.6G>A MANE Select | NP_000388.2:p.Gly2= |