Linked Data
ClinVar Variation Id:
227781
ClinVar RCV Id:
RCV000223594
dbSNP Id:
rs766172178
gnomAD v4:
11-17553374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553374C>T , CM000673.2:g.17553374C>T | GRCh38 |
| NC_000011.9:g.17574921C>T , CM000673.1:g.17574921C>T | GRCh37 |
| NC_000011.8:g.17531497C>T | NCBI36 |
| NG_033191.1:g.11002C>T | |
| NG_033191.2:g.11002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.431C>T | ENSP00000382323.2:p.Ala144Val | |
| ENST00000399397.6:c.395C>T MANE Select | ENSP00000382329.2:p.Ala132Val | |
| ENST00000399391.6:c.431C>T | ENSP00000382323.2:p.Ala144Val | |
| ENST00000399397.5:c.395C>T | ENSP00000382329.2:p.Ala132Val | |
| ENST00000428619.1:c.212C>T | ENSP00000399057.2:p.Ala71Val | |
| ENST00000498332.5:n.301C>T | ||
| NM_001277269.1:c.431C>T | NP_001264198.1:p.Ala144Val | |
| NM_001292063.1:c.395C>T | NP_001278992.1:p.Ala132Val | |
| NM_001277269.2:c.431C>T | NP_001264198.1:p.Ala144Val | |
| NM_001292063.2:c.395C>T MANE Select | NP_001278992.1:p.Ala132Val |