Linked Data
ClinVar Variation Id:
340840
ClinVar RCV Id:
RCV000315886
dbSNP Id:
rs886057265
gnomAD v3:
22-20888076-C-T
gnomAD v4:
22-20888076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888076C>T , CM000684.2:g.20888076C>T | GRCh38 |
| NC_000022.10:g.21242364C>T , CM000684.1:g.21242364C>T | GRCh37 |
| NC_000022.9:g.19572364C>T | NCBI36 |
| NG_012152.1:g.34073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*240C>T MANE Select | ENSP00000215730.6:n.*240C>T | |
| ENST00000215730.11:c.*240C>T | ENSP00000215730.6:n.*240C>T | |
| NM_004782.3:c.*240C>T | NP_004773.1:n.*240C>T | |
| NM_004782.4:c.*240C>T MANE Select | NP_004773.1:n.*240C>T |