Linked Data
ClinVar Variation Id:
296883
ClinVar RCV Id:
RCV000321656
dbSNP Id:
rs886046324
gnomAD v4:
1-23845429-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23845429G>T , CM000663.2:g.23845429G>T | GRCh38 |
| NC_000001.10:g.24171919G>T , CM000663.1:g.24171919G>T | GRCh37 |
| NC_000001.9:g.24044506G>T | NCBI36 |
| NG_013346.1:g.27941C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.*286C>A MANE Select | ENSP00000363603.3:n.*286C>A | |
| ENST00000374479.3:c.*286C>A | ENSP00000363603.3:n.*286C>A | |
| NM_000147.4:c.*286C>A | NP_000138.2:n.*286C>A | |
| XM_005245821.1:c.*286C>A | XP_005245878.1:n.*286C>A | |
| XM_011541167.1:c.*286C>A | XP_011539469.1:n.*286C>A | |
| XM_005245821.3:c.*286C>A | XP_005245878.1:n.*286C>A | |
| XM_011541167.3:c.*286C>A | XP_011539469.1:n.*286C>A | |
| XM_017000905.2:c.*286C>A | XP_016856394.1:n.*286C>A | |
| NM_000147.5:c.*286C>A MANE Select | NP_000138.2:n.*286C>A | |
| NR_174379.1:n.1865C>A | ||
| NR_174380.1:n.1914C>A | ||
| NR_174381.1:n.1753C>A | ||
| NR_174382.1:n.2150C>A |