Linked Data
MyVariant Identifiers:
chrX:g.100601607C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346619C>G , CM000685.2:g.101346619C>G | GRCh38 |
| NC_000023.10:g.100601607C>G , CM000685.1:g.100601607C>G | GRCh37 |
| NC_000023.9:g.100488263C>G | NCBI36 |
| NG_011734.1:g.7351G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.174G>C MANE Select | ENSP00000361993.3:p.Arg58= | |
| ENST00000644112.2:c.*1768G>C | ENSP00000494385.1:n.*1768G>C | |
| ENST00000645279.1:c.*368G>C | ENSP00000494239.1:n.*368G>C | |
| ENST00000647480.1:n.691G>C | ||
| ENST00000372902.3:c.174G>C | ENSP00000361993.3:p.Arg58= | |
| NM_004085.3:c.174G>C | NP_004076.1:p.Arg58= | |
| NM_004085.4:c.174G>C MANE Select | NP_004076.1:p.Arg58= | |
| NM_001145951.2:c.*1768G>C | NP_001139423.1:n.*1768G>C |