Linked Data
ClinVar Variation Id:
2806187
ClinVar RCV Id:
RCV003645497
MyVariant Identifiers:
chrX:g.15339883C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15321761C>T , CM000685.2:g.15321761C>T | GRCh38 |
| NC_000023.10:g.15339883C>T , CM000685.1:g.15339883C>T | GRCh37 |
| NC_000023.9:g.15249804C>T | NCBI36 |
| NG_009786.1:g.18778G>A , LRG_160:g.18778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1200G>A MANE Select | ENSP00000369820.3:p.Arg400= | |
| ENST00000637296.1:c.255G>A | ENSP00000490545.1:p.Arg85= | |
| ENST00000637626.1:c.*681G>A | ENSP00000489928.1:n.*681G>A | |
| ENST00000638131.1:c.*461G>A | ENSP00000490483.1:n.*461G>A | |
| ENST00000333590.5:c.1200G>A | ENSP00000369820.3:p.Arg400= | |
| ENST00000463173.1:n.472G>A | ||
| ENST00000475746.1:c.93G>A | ENSP00000488970.1:p.Arg31= | |
| ENST00000482148.6:c.693G>A | ENSP00000489528.1:p.Arg231= | |
| ENST00000542278.6:c.1200G>A | ENSP00000442653.2:p.Arg400= | |
| ENST00000634582.1:c.498G>A | ENSP00000489540.1:p.Arg166= | |
| ENST00000634640.1:c.255G>A | ENSP00000489083.1:p.Arg85= | |
| ENST00000635045.1:n.1433G>A | ||
| ENST00000635598.1:c.*469G>A | ENSP00000489207.1:n.*469G>A | |
| ENST00000635631.1:n.541G>A | ||
| NM_002641.3:c.1200G>A , LRG_160t1:c.1200G>A | NP_002632.1:p.Arg400= | |
| NM_020473.3:c.498G>A | NP_065206.3:p.Arg166= | |
| NR_033835.1:n.942G>A | ||
| NR_033836.1:n.658G>A | ||
| XM_011545539.1:c.507G>A | XP_011543841.1:p.Arg169= | |
| XM_011545539.2:c.507G>A | XP_011543841.1:p.Arg169= | |
| NM_002641.4:c.1200G>A MANE Select | NP_002632.1:p.Arg400= |