Linked Data
ClinVar Variation Id:
11176
dbSNP Id:
rs132630262
gnomAD v4:
X-154379737-C-T
PubMed:
PMID:8595406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379737C>T , CM000685.2:g.154379737C>T | GRCh38 |
| NC_000023.10:g.153608097C>T , CM000685.1:g.153608097C>T | GRCh37 |
| NC_000023.9:g.153261291C>T | NCBI36 |
| NG_008677.1:g.10302C>T , LRG_745:g.10302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.130C>T | ENSP00000507245.1:p.Gln44Ter | |
| ENST00000682478.1:n.106C>T | ||
| ENST00000683576.1:n.106C>T | ||
| ENST00000683627.1:c.130C>T | ENSP00000507533.1:p.Gln44Ter | |
| ENST00000684082.1:c.130C>T | ENSP00000508266.1:p.Gln44Ter | |
| ENST00000684633.1:n.102C>T | ||
| ENST00000684678.1:c.126C>T | ENSP00000507059.1:p.Pro42= | |
| ENST00000369842.9:c.130C>T MANE Select | ENSP00000358857.4:p.Gln44Ter | |
| ENST00000369835.3:c.82+171C>T | ENSP00000358850.3:n.82+171C>T | |
| ENST00000369842.8:c.130C>T | ENSP00000358857.4:p.Gln44Ter | |
| ENST00000428228.5:c.*35C>T | ENSP00000401081.1:n.*35C>T | |
| ENST00000468294.5:n.90C>T | ||
| ENST00000485261.1:n.163+171C>T | ||
| ENST00000486738.5:n.274C>T | ||
| ENST00000492448.1:n.113C>T | ||
| ENST00000494443.5:n.187C>T | ||
| NM_000117.2:c.130C>T , LRG_745t1:c.130C>T | NP_000108.1:p.Gln44Ter | |
| XM_024452349.1:c.-79C>T | XP_024308117.1:n.-79C>T | |
| NM_000117.3:c.130C>T MANE Select | NP_000108.1:p.Gln44Ter |