Linked Data
ClinVar Variation Id:
1558870
ClinVar RCV Id:
RCV002200273
dbSNP Id:
rs2146811690
gnomAD v4:
X-37796010-C-A
MyVariant Identifiers:
chrX:g.37655263C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796010C>A , CM000685.2:g.37796010C>A | GRCh38 |
| NC_000023.10:g.37655263C>A , CM000685.1:g.37655263C>A | GRCh37 |
| NC_000023.9:g.37540203C>A | NCBI36 |
| NG_009065.1:g.20990C>A , LRG_53:g.20990C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*52C>A | ENSP00000512461.1:n.*52C>A | |
| ENST00000696171.1:c.447C>A | ENSP00000512462.1:p.Val149= | |
| ENST00000696172.1:c.338-2945C>A | ENSP00000512463.1:n.338-2945C>A | |
| ENST00000378588.5:c.543C>A MANE Select | ENSP00000367851.4:p.Val181= | |
| ENST00000378588.4:c.543C>A | ENSP00000367851.4:p.Val181= | |
| ENST00000465127.1:c.171+370010C>A | ENSP00000417050.1:n.171+370010C>A | |
| NM_000397.3:c.543C>A , LRG_53t1:c.543C>A | NP_000388.2:p.Val181= | |
| XM_011543890.1:c.237C>A | XP_011542192.1:p.Val79= | |
| NM_000397.4:c.543C>A MANE Select | NP_000388.2:p.Val181= |