Linked Data
ClinVar Variation Id:
2741528
ClinVar RCV Id:
RCV003523579
dbSNP Id:
rs1189809189
MyVariant Identifiers:
chrX:g.154379928T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379928T>C , CM000685.2:g.154379928T>C | GRCh38 |
| NC_000023.10:g.153608288T>C , CM000685.1:g.153608288T>C | GRCh37 |
| NC_000023.9:g.153261482T>C | NCBI36 |
| NG_008677.1:g.10493T>C , LRG_745:g.10493T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.188-14T>C | ENSP00000507245.1:n.188-14T>C | |
| ENST00000682478.1:n.164-14T>C | ||
| ENST00000683576.1:n.164-14T>C | ||
| ENST00000683627.1:c.188-14T>C | ENSP00000507533.1:n.188-14T>C | |
| ENST00000684082.1:c.188-14T>C | ENSP00000508266.1:n.188-14T>C | |
| ENST00000684633.1:n.160-14T>C | ||
| ENST00000684678.1:c.184-14T>C | ENSP00000507059.1:n.184-14T>C | |
| ENST00000369842.9:c.188-14T>C MANE Select | ENSP00000358857.4:n.188-14T>C | |
| ENST00000369835.3:c.83-14T>C | ENSP00000358850.3:n.83-14T>C | |
| ENST00000369842.8:c.188-14T>C | ENSP00000358857.4:n.188-14T>C | |
| ENST00000428228.5:c.*93-14T>C | ENSP00000401081.1:n.*93-14T>C | |
| ENST00000468294.5:n.148-14T>C | ||
| ENST00000485261.1:n.164-14T>C | ||
| ENST00000486738.5:n.332-14T>C | ||
| ENST00000492448.1:n.171-14T>C | ||
| ENST00000494443.5:n.245-14T>C | ||
| NM_000117.2:c.188-14T>C , LRG_745t1:c.188-14T>C | NP_000108.1:n.188-14T>C | |
| XM_024452349.1:c.-21-14T>C | XP_024308117.1:n.-21-14T>C | |
| NM_000117.3:c.188-14T>C MANE Select | NP_000108.1:n.188-14T>C |