Linked Data
MyVariant Identifiers:
chrX:g.135741253G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659094G>C , CM000685.2:g.136659094G>C | GRCh38 |
| NC_000023.10:g.135741253G>C , CM000685.1:g.135741253G>C | GRCh37 |
| NC_000023.9:g.135568919G>C | NCBI36 |
| NG_007280.1:g.15918G>C , LRG_141:g.15918G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*83G>C | ENSP00000512122.1:n.*83G>C | |
| ENST00000695725.1:c.*20G>C | ENSP00000512123.1:n.*20G>C | |
| ENST00000695726.1:n.2433G>C | ||
| ENST00000695729.1:n.3268G>C | ||
| ENST00000370629.7:c.465G>C MANE Select | ENSP00000359663.2:p.Leu155= | |
| ENST00000370628.2:c.402G>C | ENSP00000359662.2:p.Leu134= | |
| ENST00000370629.6:c.465G>C | ENSP00000359663.2:p.Leu155= | |
| NM_000074.2:c.465G>C , LRG_141t1:c.465G>C | NP_000065.1:p.Leu155= | |
| NM_000074.3:c.465G>C MANE Select | NP_000065.1:p.Leu155= |