Linked Data
ClinVar Variation Id:
1969899
ClinVar RCV Id:
RCV002760269
dbSNP Id:
rs776287680
gnomAD v2:
12-4488551-A-G
gnomAD v3:
12-4379385-A-G
gnomAD v4:
12-4379385-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4379385A>G , CM000674.2:g.4379385A>G | GRCh38 |
| NC_000012.11:g.4488551A>G , CM000674.1:g.4488551A>G | GRCh37 |
| NC_000012.10:g.4358812A>G | NCBI36 |
| NG_007087.1:g.5344T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.198T>C MANE Select | ENSP00000237837.1:p.His66= | |
| ENST00000648100.1:c.*1967+13103A>G | ENSP00000497536.1:n.*1967+13103A>G | |
| ENST00000674624.1:c.*1204+13103A>G | ENSP00000501898.1:n.*1204+13103A>G | |
| ENST00000237837.1:c.198T>C | ENSP00000237837.1:p.His66= | |
| NM_020638.2:c.198T>C | NP_065689.1:p.His66= | |
| NM_020638.3:c.198T>C MANE Select | NP_065689.1:p.His66= |