Linked Data
ClinVar Variation Id:
2418171
ClinVar RCV Id:
RCV003118280
dbSNP Id:
rs1405035963
gnomAD v4:
12-4372632-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372632A>G , CM000674.2:g.4372632A>G | GRCh38 |
| NC_000012.11:g.4481798A>G , CM000674.1:g.4481798A>G | GRCh37 |
| NC_000012.10:g.4352059A>G | NCBI36 |
| NG_007087.1:g.12097T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237837.2:c.277T>C MANE Select | ENSP00000237837.1:p.Tyr93His | |
| ENST00000648100.1:c.*1967+6350A>G | ENSP00000497536.1:n.*1967+6350A>G | |
| ENST00000648269.1:n.1777T>C | ||
| ENST00000674624.1:c.*1204+6350A>G | ENSP00000501898.1:n.*1204+6350A>G | |
| ENST00000237837.1:c.277T>C | ENSP00000237837.1:p.Tyr93His | |
| NM_020638.2:c.277T>C | NP_065689.1:p.Tyr93His | |
| NM_020638.3:c.277T>C MANE Select | NP_065689.1:p.Tyr93His |