Linked Data
ClinVar Variation Id:
1150486
dbSNP Id:
rs1244640427
gnomAD v3:
5-173232587-A-G
gnomAD v4:
5-173232587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232587A>G , CM000667.2:g.173232587A>G | GRCh38 |
| NC_000005.9:g.172659590A>G , CM000667.1:g.172659590A>G | GRCh37 |
| NC_000005.8:g.172592196A>G | NCBI36 |
| NG_013340.1:g.7726T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.957T>C MANE Select | ENSP00000327758.4:p.His319= | |
| ENST00000329198.4:c.957T>C | ENSP00000327758.4:p.His319= | |
| NM_001166175.1:c.*910T>C | NP_001159647.1:n.*910T>C | |
| NM_001166176.1:c.*756T>C | NP_001159648.1:n.*756T>C | |
| NM_004387.3:c.957T>C | NP_004378.1:p.His319= | |
| NM_004387.4:c.957T>C MANE Select | NP_004378.1:p.His319= | |
| NM_001166175.2:c.*910T>C | NP_001159647.1:n.*910T>C | |
| NM_001166176.2:c.*756T>C | NP_001159648.1:n.*756T>C |