Linked Data
ClinVar Variation Id:
10046
dbSNP Id:
rs137852489
gnomAD v4:
X-134486471-C-T
PubMed:
PMID:2347587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134486471C>T , CM000685.2:g.134486471C>T | GRCh38 |
| NC_000023.10:g.133620501C>T , CM000685.1:g.133620501C>T | GRCh37 |
| NC_000023.9:g.133448167C>T | NCBI36 |
| NG_012329.1:g.31327C>T | |
| NG_012329.2:g.31327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.325C>T MANE Select | ENSP00000298556.7:p.Gln109Ter | |
| ENST00000298556.7:c.325C>T | ENSP00000298556.7:p.Gln109Ter | |
| ENST00000462974.5:n.483C>T | ||
| ENST00000475720.1:n.283C>T | ||
| NM_000194.2:c.325C>T | NP_000185.1:p.Gln109Ter | |
| XM_011531328.1:c.343C>T | XP_011529630.1:p.Gln115Ter | |
| NM_000194.3:c.325C>T MANE Select | NP_000185.1:p.Gln109Ter |