Linked Data
ClinVar Variation Id:
337857
dbSNP Id:
rs3176124
gnomAD v2:
20-23026945-G-A
gnomAD v3:
20-23046308-G-A
gnomAD v4:
20-23046308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046308G>A , CM000682.2:g.23046308G>A | GRCh38 |
| NC_000020.10:g.23026945G>A , CM000682.1:g.23026945G>A | GRCh37 |
| NC_000020.9:g.22974945G>A | NCBI36 |
| NG_012027.1:g.8357C>T , LRG_168:g.8357C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.*1469C>T MANE Select | ENSP00000366307.2:n.*1469C>T | |
| ENST00000377103.2:c.*1469C>T | ENSP00000366307.2:n.*1469C>T | |
| NM_000361.2:c.*1469C>T , LRG_168t1:c.*1469C>T | NP_000352.1:n.*1469C>T | |
| NM_000361.3:c.*1469C>T MANE Select | NP_000352.1:n.*1469C>T |