Linked Data
ClinVar Variation Id:
445578
ClinVar RCV Id:
RCV000513851
dbSNP Id:
rs1199180487
gnomAD v2:
10-89622108-A-C
gnomAD v3:
10-87862351-A-C
gnomAD v4:
10-87862351-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87862351A>C , CM000672.2:g.87862351A>C | GRCh38 |
| NC_000010.10:g.89622108A>C , CM000672.1:g.89622108A>C | GRCh37 |
| NC_000010.9:g.89612088A>C | NCBI36 |
| NG_007466.2:g.3914A>C , LRG_311:g.3914A>C | |
| NG_033079.1:g.6087T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445946.5:c.137T>G MANE Select | ENSP00000392204.2:p.Phe46Cys | |
| ENST00000445946.3:c.137T>G | ENSP00000392204.2:p.Phe46Cys | |
| NM_001126049.1:c.137T>G | NP_001119521.1:p.Phe46Cys | |
| NM_001126049.2:c.137T>G MANE Select | NP_001119521.1:p.Phe46Cys |