Linked Data
MyVariant Identifiers:
chrX:g.153453509G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154188020G>C , CM000685.2:g.154188020G>C | GRCh38 |
| NC_000023.10:g.153453509G>C , CM000685.1:g.153453509G>C | GRCh37 |
| NG_011606.1:g.10425G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.363G>C MANE Select | ENSP00000472316.1:p.Leu121= | |
| ENST00000595290.5:c.363G>C | ENSP00000472316.1:p.Leu121= | |
| ENST00000595330.1:n.373G>C | ||
| NM_000513.2:c.363G>C MANE Select | NP_000504.1:p.Leu121= |