Linked Data
ClinVar Variation Id:
2234504
ClinVar RCV Id:
RCV004094480
MyVariant Identifiers:
chrX:g.49581765C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49581765C>T , CM000685.2:g.49581765C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381722.2:c.197C>T MANE Select | ENSP00000371141.1:p.Ala66Val | |
| ENST00000381722.1:c.197C>T | ENSP00000371141.1:p.Ala66Val | |
| NM_001098410.1:c.197C>T | NP_001091880.1:p.Ala66Val | |
| NM_001098410.3:c.197C>T MANE Select | NP_001091880.1:p.Ala66Val |