Linked Data
ClinVar Variation Id:
369949
ClinVar RCV Id:
RCV000408826
dbSNP Id:
rs1057516192
gnomAD v4:
20-3083168-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083168C>A , CM000682.2:g.3083168C>A | GRCh38 |
| NC_000020.10:g.3063814C>A , CM000682.1:g.3063814C>A | GRCh37 |
| NC_000020.9:g.3011814C>A | NCBI36 |
| NG_008663.1:g.6557G>T , LRG_715:g.6557G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.131G>T MANE Select | ENSP00000369647.3:p.Cys44Phe | |
| NM_000490.4:c.131G>T , LRG_715t1:c.131G>T | NP_000481.2:p.Cys44Phe | |
| XM_011529267.1:c.131G>T | XP_011527569.1:p.Cys44Phe | |
| XM_011529267.2:c.131G>T | XP_011527569.1:p.Cys44Phe | |
| NM_000490.5:c.131G>T MANE Select | NP_000481.2:p.Cys44Phe |