Linked Data
ClinVar Variation Id:
1610372
ClinVar RCV Id:
RCV002155460
dbSNP Id:
rs2148553751
MyVariant Identifiers:
chrX:g.135741406C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659247C>T , CM000685.2:g.136659247C>T | GRCh38 |
| NC_000023.10:g.135741406C>T , CM000685.1:g.135741406C>T | GRCh37 |
| NC_000023.9:g.135569072C>T | NCBI36 |
| NG_007280.1:g.16071C>T , LRG_141:g.16071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*236C>T | ENSP00000512122.1:n.*236C>T | |
| ENST00000695725.1:c.*173C>T | ENSP00000512123.1:n.*173C>T | |
| ENST00000695726.1:n.2586C>T | ||
| ENST00000695729.1:n.3421C>T | ||
| ENST00000370629.7:c.618C>T MANE Select | ENSP00000359663.2:p.Leu206= | |
| ENST00000370628.2:c.555C>T | ENSP00000359662.2:p.Leu185= | |
| ENST00000370629.6:c.618C>T | ENSP00000359663.2:p.Leu206= | |
| NM_000074.2:c.618C>T , LRG_141t1:c.618C>T | NP_000065.1:p.Leu206= | |
| NM_000074.3:c.618C>T MANE Select | NP_000065.1:p.Leu206= |