Linked Data
ClinVar Variation Id:
1118300
ClinVar RCV Id:
RCV001447327
dbSNP Id:
rs2083222587
gnomAD v4:
X-100670900-C-T
MyVariant Identifiers:
chrX:g.99925897C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100670900C>T , CM000685.2:g.100670900C>T | GRCh38 |
| NC_000023.10:g.99925897C>T , CM000685.1:g.99925897C>T | GRCh37 |
| NC_000023.9:g.99812553C>T | NCBI36 |
| NG_021337.1:g.31735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.1311C>T MANE Select | ENSP00000362095.3:p.Pro437= | |
| ENST00000638920.1:n.1314C>T | ||
| ENST00000640282.1:c.235C>T | ENSP00000491188.1:n.235C>T | |
| ENST00000373004.3:c.1311C>T | ENSP00000362095.3:p.Pro437= | |
| NM_014467.2:c.1311C>T | NP_055282.1:p.Pro437= | |
| XM_005262121.2:c.1311C>T | XP_005262178.1:p.Pro437= | |
| NM_014467.3:c.1311C>T MANE Select | NP_055282.1:p.Pro437= |