Linked Data
ClinVar Variation Id:
2416246
ClinVar RCV Id:
RCV003106995
gnomAD v4:
X-154380987-C-T
MyVariant Identifiers:
chrX:g.153609347C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380987C>T , CM000685.2:g.154380987C>T | GRCh38 |
| NC_000023.10:g.153609347C>T , CM000685.1:g.153609347C>T | GRCh37 |
| NC_000023.9:g.153262541C>T | NCBI36 |
| NG_008677.1:g.11552C>T , LRG_745:g.11552C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.555C>T | ENSP00000507245.1:p.Ser185= | |
| ENST00000682478.1:n.745C>T | ||
| ENST00000683576.1:n.745C>T | ||
| ENST00000683627.1:c.555C>T | ENSP00000507533.1:p.Ser185= | |
| ENST00000684082.1:c.512C>T | ENSP00000508266.1:n.512C>T | |
| ENST00000684633.1:n.527C>T | ||
| ENST00000684678.1:c.551C>T | ENSP00000507059.1:n.551C>T | |
| ENST00000369842.9:c.555C>T MANE Select | ENSP00000358857.4:p.Ser185= | |
| ENST00000369835.3:c.450C>T | ENSP00000358850.3:p.Ser150= | |
| ENST00000369842.8:c.555C>T | ENSP00000358857.4:p.Ser185= | |
| ENST00000428228.5:c.*460C>T | ENSP00000401081.1:n.*460C>T | |
| ENST00000471965.1:n.344C>T | ||
| ENST00000486738.5:n.992C>T | ||
| ENST00000492448.1:n.538C>T | ||
| NM_000117.2:c.555C>T , LRG_745t1:c.555C>T | NP_000108.1:p.Ser185= | |
| XM_024452349.1:c.561C>T | XP_024308117.1:p.Ser187= | |
| NM_000117.3:c.555C>T MANE Select | NP_000108.1:p.Ser185= |