Linked Data
ClinVar Variation Id:
594546
ClinVar RCV Id:
RCV000729856
dbSNP Id:
rs1266603500
ExAC:
8:77895864 C / A
gnomAD v2:
8-77895864-C-A
gnomAD v3:
8-76983628-C-A
gnomAD v4:
8-76983628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983628C>A , CM000670.2:g.76983628C>A | GRCh38 |
| NC_000008.10:g.77895864C>A , CM000670.1:g.77895864C>A | GRCh37 |
| NC_000008.9:g.78058419C>A | NCBI36 |
| NG_008371.1:g.21661G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.551G>T MANE Select | ENSP00000349543.4:p.Cys184Phe | |
| ENST00000357039.8:c.551G>T | ENSP00000349543.4:p.Cys184Phe | |
| ENST00000520103.5:c.551G>T | ENSP00000428590.1:p.Cys184Phe | |
| ENST00000522527.5:c.551G>T | ENSP00000428638.1:p.Cys184Phe | |
| NM_000318.2:c.551G>T | NP_000309.1:p.Arg184Leu | |
| NM_001079867.1:c.551G>T | NP_001073336.1:p.Arg184Leu | |
| NM_001172086.1:c.551G>T | NP_001165557.1:p.Arg184Leu | |
| NM_001172087.1:c.551G>T | NP_001165558.1:p.Arg184Leu | |
| NM_000318.3:c.551G>T MANE Select | NP_000309.2:p.Cys184Phe | |
| NM_001079867.2:c.551G>T | NP_001073336.2:p.Cys184Phe | |
| NM_001172086.2:c.551G>T | NP_001165557.2:p.Cys184Phe | |
| NM_001172087.2:c.551G>T | NP_001165558.2:p.Cys184Phe |