Linked Data
ClinVar Variation Id:
1581453
ClinVar RCV Id:
RCV002097270
dbSNP Id:
rs1556468347
MyVariant Identifiers:
chrX:g.37655296C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796043C>G , CM000685.2:g.37796043C>G | GRCh38 |
| NC_000023.10:g.37655296C>G , CM000685.1:g.37655296C>G | GRCh37 |
| NC_000023.9:g.37540236C>G | NCBI36 |
| NG_009065.1:g.21023C>G , LRG_53:g.21023C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*85C>G | ENSP00000512461.1:n.*85C>G | |
| ENST00000696171.1:c.480C>G | ENSP00000512462.1:p.Ser160= | |
| ENST00000696172.1:c.338-2912C>G | ENSP00000512463.1:n.338-2912C>G | |
| ENST00000378588.5:c.576C>G MANE Select | ENSP00000367851.4:p.Ser192= | |
| ENST00000378588.4:c.576C>G | ENSP00000367851.4:p.Ser192= | |
| ENST00000465127.1:c.171+370043C>G | ENSP00000417050.1:n.171+370043C>G | |
| NM_000397.3:c.576C>G , LRG_53t1:c.576C>G | NP_000388.2:p.Ser192= | |
| XM_011543890.1:c.270C>G | XP_011542192.1:p.Ser90= | |
| NM_000397.4:c.576C>G MANE Select | NP_000388.2:p.Ser192= |