Linked Data
dbSNP Id:
rs6583954
gnomAD v2:
10-96534263-C-T
gnomAD v3:
10-94774506-C-T
gnomAD v4:
10-94774506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94774506C>T , CM000672.2:g.94774506C>T | GRCh38 |
| NC_000010.10:g.96534263C>T , CM000672.1:g.96534263C>T | GRCh37 |
| NC_000010.9:g.96524253C>T | NCBI36 |
| NG_008384.2:g.16801C>T | |
| NG_008384.3:g.16826C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.169-552C>T (CYP2C19) MANE Select | ENSP00000360372.3:n.169-552C>T | |
| ENST00000645461.1:n.670C>T (CYP2C19) | ||
| ENST00000371321.7:c.169-552C>T (CYP2C19) | ENSP00000360372.3:n.169-552C>T | |
| ENST00000446659.1:n.128G>A (MTND4P19) | ||
| ENST00000464755.1:c.932-552C>T | ENSP00000483243.1:n.932-552C>T | |
| ENST00000480405.2:c.169-552C>T (CYP2C19) | ENSP00000483847.1:n.169-552C>T | |
| NM_000769.2:c.169-552C>T (CYP2C19) | NP_000760.1:n.169-552C>T | |
| NM_000769.4:c.169-552C>T (CYP2C19) MANE Select | NP_000760.1:n.169-552C>T |