Linked Data
ClinVar Variation Id:
297333
ClinVar RCV Id:
RCV000381940
dbSNP Id:
rs776804215
gnomAD v2:
1-43200234-C-T
gnomAD v3:
1-42734563-C-T
gnomAD v4:
1-42734563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42734563C>T , CM000663.2:g.42734563C>T | GRCh38 |
| NC_000001.10:g.43200234C>T , CM000663.1:g.43200234C>T | GRCh37 |
| NC_000001.9:g.42972821C>T | NCBI36 |
| NG_008993.1:g.10692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.*523G>A MANE Select | ENSP00000296387.1:n.*523G>A | |
| ENST00000296387.5:c.*523G>A | ENSP00000296387.1:n.*523G>A | |
| ENST00000539749.5:c.*1199G>A | ENSP00000443229.1:n.*1199G>A | |
| NM_001123395.1:c.*1305G>A | NP_001116867.1:n.*1305G>A | |
| NM_001185117.1:c.*1199G>A | NP_001172046.1:n.*1199G>A | |
| NM_148960.2:c.*523G>A | NP_683763.2:n.*523G>A | |
| NM_001123395.2:c.*1305G>A | NP_001116867.1:n.*1305G>A | |
| NM_148960.3:c.*523G>A MANE Select | NP_683763.2:n.*523G>A | |
| NM_001185117.2:c.*1199G>A | NP_001172046.1:n.*1199G>A |