Linked Data
ClinVar Variation Id:
836263
ClinVar RCV Id:
RCV001037343
dbSNP Id:
rs2022550603
gnomAD v4:
19-7525121-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525121C>A , CM000681.2:g.7525121C>A | GRCh38 |
| NC_000019.9:g.7590007C>A , CM000681.1:g.7590007C>A | GRCh37 |
| NC_000019.8:g.7496007C>A | NCBI36 |
| NG_015806.1:g.7512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.192C>A MANE Select | ENSP00000264079.5:p.Cys64Ter | |
| ENST00000264079.10:c.192C>A | ENSP00000264079.5:p.Cys64Ter | |
| ENST00000394321.9:n.272C>A | ||
| ENST00000596390.1:n.308C>A | ||
| ENST00000601003.1:c.192C>A | ENSP00000469074.1:p.Cys64Ter | |
| NM_020533.2:c.192C>A | NP_065394.1:p.Cys64Ter | |
| NM_020533.3:c.192C>A MANE Select | NP_065394.1:p.Cys64Ter |