Linked Data
ClinVar Variation Id:
3109
dbSNP Id:
rs121918339
gnomAD v4:
12-100396373-C-T
COSMIC:
COSM691729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100396373C>T , CM000674.2:g.100396373C>T | GRCh38 |
| NC_000012.11:g.100790151C>T , CM000674.1:g.100790151C>T | GRCh37 |
| NC_000012.10:g.99314282C>T | NCBI36 |
| NG_021175.1:g.44295C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323346.10:c.632C>T MANE Select | ENSP00000316909.4:p.Ala211Val | |
| ENST00000323346.9:c.632C>T | ENSP00000316909.4:p.Ala211Val | |
| ENST00000392989.3:c.632C>T | ENSP00000376715.3:p.Ala211Val | |
| NM_001145288.1:c.632C>T | NP_001138760.1:p.Ala211Val | |
| NM_139319.2:c.632C>T | NP_647480.1:p.Ala211Val | |
| NM_001145288.2:c.632C>T | NP_001138760.1:p.Ala211Val | |
| NM_139319.3:c.632C>T MANE Select | NP_647480.1:p.Ala211Val |