Linked Data
MyVariant Identifiers:
chrX:g.135741202A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659043A>G , CM000685.2:g.136659043A>G | GRCh38 |
| NC_000023.10:g.135741202A>G , CM000685.1:g.135741202A>G | GRCh37 |
| NC_000023.9:g.135568868A>G | NCBI36 |
| NG_007280.1:g.15867A>G , LRG_141:g.15867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*32A>G | ENSP00000512122.1:n.*32A>G | |
| ENST00000695725.1:c.161A>G | ENSP00000512123.1:p.Tyr54Cys | |
| ENST00000695726.1:n.2382A>G | ||
| ENST00000695729.1:n.3217A>G | ||
| ENST00000370629.7:c.414A>G MANE Select | ENSP00000359663.2:p.Leu138= | |
| ENST00000370628.2:c.351A>G | ENSP00000359662.2:p.Leu117= | |
| ENST00000370629.6:c.414A>G | ENSP00000359663.2:p.Leu138= | |
| NM_000074.2:c.414A>G , LRG_141t1:c.414A>G | NP_000065.1:p.Leu138= | |
| NM_000074.3:c.414A>G MANE Select | NP_000065.1:p.Leu138= |