Linked Data
ClinVar Variation Id:
2771312
ClinVar RCV Id:
RCV003510419
dbSNP Id:
rs34290745
gnomAD v2:
X-37664441-G-T
gnomAD v3:
X-37805188-G-T
gnomAD v4:
X-37805188-G-T
MyVariant Identifiers:
chrX:g.37664441G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37805188G>T , CM000685.2:g.37805188G>T | GRCh38 |
| NC_000023.10:g.37664441G>T , CM000685.1:g.37664441G>T | GRCh37 |
| NC_000023.9:g.37549385G>T | NCBI36 |
| NG_009065.1:g.30172G>T , LRG_53:g.30172G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*823+20G>T | ENSP00000512461.1:n.*823+20G>T | |
| ENST00000696171.1:c.1218+20G>T | ENSP00000512462.1:n.1218+20G>T | |
| ENST00000378588.5:c.1314+20G>T MANE Select | ENSP00000367851.4:n.1314+20G>T | |
| ENST00000378588.4:c.1314+20G>T | ENSP00000367851.4:n.1314+20G>T | |
| ENST00000465127.1:c.171+379188G>T | ENSP00000417050.1:n.171+379188G>T | |
| NM_000397.3:c.1314+20G>T , LRG_53t1:c.1314+20G>T | NP_000388.2:n.1314+20G>T | |
| XM_011543890.1:c.1008+20G>T | XP_011542192.1:n.1008+20G>T | |
| NM_000397.4:c.1314+20G>T MANE Select | NP_000388.2:n.1314+20G>T |