Linked Data
ClinVar Variation Id:
2938492
ClinVar RCV Id:
RCV003799266
gnomAD v4:
X-139541101-A-G
MyVariant Identifiers:
chrX:g.138623260A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139541101A>G , CM000685.2:g.139541101A>G | GRCh38 |
| NC_000023.10:g.138623260A>G , CM000685.1:g.138623260A>G | GRCh37 |
| NC_000023.9:g.138450926A>G | NCBI36 |
| NG_007994.1:g.15366A>G , LRG_556:g.15366A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.303A>G MANE Select | ENSP00000218099.2:p.Pro101= | |
| ENST00000218099.6:c.303A>G | ENSP00000218099.2:p.Pro101= | |
| ENST00000394090.2:c.277+3715A>G | ENSP00000377650.2:n.277+3715A>G | |
| ENST00000479617.2:n.256A>G | ||
| NM_000133.3:c.303A>G , LRG_556t1:c.303A>G | NP_000124.1:p.Pro101= | |
| NM_001313913.1:c.277+3715A>G | NP_001300842.1:n.277+3715A>G | |
| XM_005262397.3:c.303A>G | XP_005262454.1:p.Pro101= | |
| XM_005262397.4:c.303A>G | XP_005262454.1:p.Pro101= | |
| NM_000133.4:c.303A>G MANE Select | NP_000124.1:p.Pro101= | |
| NM_001313913.2:c.277+3715A>G | NP_001300842.1:n.277+3715A>G |