Linked Data
ClinVar Variation Id:
208353
dbSNP Id:
rs796065312
gnomAD v4:
X-43683572-C-T
PubMed:
PMID:25807999
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43683572C>T , CM000685.2:g.43683572C>T | GRCh38 |
| NC_000023.10:g.43542820C>T , CM000685.1:g.43542820C>T | GRCh37 |
| NC_000023.9:g.43427764C>T | NCBI36 |
| NG_008957.2:g.32412C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000497485.2:n.265C>T | ||
| ENST00000542639.6:c.-267C>T | ENSP00000440846.1:n.-267C>T | |
| ENST00000686683.1:c.-478C>T | ENSP00000509063.1:n.-478C>T | |
| ENST00000686980.1:n.265C>T | ||
| ENST00000688006.1:c.-267C>T | ENSP00000510311.1:n.-267C>T | |
| ENST00000689087.1:c.-267C>T | ENSP00000508997.1:n.-267C>T | |
| ENST00000693128.1:c.133C>T | ENSP00000508493.1:p.Arg45Trp | |
| ENST00000338702.4:c.133C>T MANE Select | ENSP00000340684.3:p.Arg45Trp | |
| ENST00000338702.3:c.133C>T | ENSP00000340684.3:p.Arg45Trp | |
| ENST00000497485.1:n.281C>T | ||
| ENST00000542639.5:c.-267C>T | ENSP00000440846.1:n.-267C>T | |
| NM_000240.3:c.133C>T | NP_000231.1:p.Arg45Trp | |
| NM_001270458.1:c.-267C>T | NP_001257387.1:n.-267C>T | |
| NM_000240.4:c.133C>T MANE Select | NP_000231.1:p.Arg45Trp | |
| NM_001270458.2:c.-267C>T | NP_001257387.1:n.-267C>T |