Linked Data
ClinVar Variation Id:
337853
ClinVar RCV Id:
RCV000340614
dbSNP Id:
rs886056539
gnomAD v3:
20-23045908-C-T
gnomAD v4:
20-23045908-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23045908C>T , CM000682.2:g.23045908C>T | GRCh38 |
| NC_000020.10:g.23026545C>T , CM000682.1:g.23026545C>T | GRCh37 |
| NC_000020.9:g.22974545C>T | NCBI36 |
| NG_012027.1:g.8757G>A , LRG_168:g.8757G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.*1869G>A MANE Select | ENSP00000366307.2:n.*1869G>A | |
| ENST00000377103.2:c.*1869G>A | ENSP00000366307.2:n.*1869G>A | |
| NM_000361.2:c.*1869G>A , LRG_168t1:c.*1869G>A | NP_000352.1:n.*1869G>A | |
| NM_000361.3:c.*1869G>A MANE Select | NP_000352.1:n.*1869G>A |