Linked Data
ClinVar Variation Id:
1072052
ClinVar RCV Id:
RCV001384670
dbSNP Id:
rs776845391
gnomAD v4:
19-7525088-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525088C>A , CM000681.2:g.7525088C>A | GRCh38 |
| NC_000019.9:g.7589974C>A , CM000681.1:g.7589974C>A | GRCh37 |
| NC_000019.8:g.7495974C>A | NCBI36 |
| NG_015806.1:g.7479C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.159C>A MANE Select | ENSP00000264079.5:p.Cys53Ter | |
| ENST00000264079.10:c.159C>A | ENSP00000264079.5:p.Cys53Ter | |
| ENST00000394321.9:n.239C>A | ||
| ENST00000596390.1:n.275C>A | ||
| ENST00000601003.1:c.159C>A | ENSP00000469074.1:p.Cys53Ter | |
| NM_020533.2:c.159C>A | NP_065394.1:p.Cys53Ter | |
| NM_020533.3:c.159C>A MANE Select | NP_065394.1:p.Cys53Ter |