Linked Data
ClinVar Variation Id:
285901
dbSNP Id:
rs192839222
ExAC:
16:23203753 C / T
gnomAD v2:
16-23203753-C-T
gnomAD v3:
16-23192432-C-T
gnomAD v4:
16-23192432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23192432C>T , CM000678.2:g.23192432C>T | GRCh38 |
| NC_000016.9:g.23203753C>T , CM000678.1:g.23203753C>T | GRCh37 |
| NC_000016.8:g.23111254C>T | NCBI36 |
| NG_011909.1:g.14714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.699C>T MANE Select | ENSP00000300061.2:p.His233= | |
| ENST00000300061.2:c.699C>T | ENSP00000300061.2:p.His233= | |
| NM_001039.3:c.699C>T | NP_001030.2:p.His233= | |
| NM_001039.4:c.699C>T MANE Select | NP_001030.2:p.His233= |