Linked Data
ClinVar Variation Id:
1770192
ClinVar RCV Id:
RCV002387540
dbSNP Id:
rs762982664
gnomAD v2:
2-21224960-T-G
gnomAD v3:
2-21002088-T-G
gnomAD v4:
2-21002088-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002088T>G , CM000664.2:g.21002088T>G | GRCh38 |
| NC_000002.11:g.21224960T>G , CM000664.1:g.21224960T>G | GRCh37 |
| NC_000002.10:g.21078465T>G | NCBI36 |
| NG_011793.1:g.46986A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13334A>C MANE Select | ENSP00000233242.1:p.His4445Pro | |
| ENST00000616098.4:c.13332A>C | ENSP00000477990.1:n.13332A>C | |
| NM_000384.2:c.13334A>C | NP_000375.2:p.His4445Pro | |
| XM_011532809.1:c.5870-2815A>C | XP_011531111.1:n.5870-2815A>C | |
| NM_000384.3:c.13334A>C MANE Select | NP_000375.3:p.His4445Pro |