Linked Data
ClinVar Variation Id:
2062164
ClinVar RCV Id:
RCV002923514
dbSNP Id:
rs780511886
gnomAD v2:
13-110822129-C-T
gnomAD v3:
13-110169782-C-T
gnomAD v4:
13-110169782-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169782C>T , CM000675.2:g.110169782C>T | GRCh38 |
| NC_000013.10:g.110822129C>T , CM000675.1:g.110822129C>T | GRCh37 |
| NC_000013.9:g.109620130C>T | NCBI36 |
| NG_011544.2:g.142368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3743-20G>A MANE Select | ENSP00000364979.4:n.3743-20G>A | |
| ENST00000375820.8:c.3743-20G>A | ENSP00000364979.4:n.3743-20G>A | |
| NM_001845.5:c.3743-20G>A | NP_001836.3:n.3743-20G>A | |
| XM_011521048.1:c.3551-20G>A | XP_011519350.1:n.3551-20G>A | |
| XM_011521048.2:c.3551-20G>A | XP_011519350.1:n.3551-20G>A | |
| NM_001845.6:c.3743-20G>A MANE Select | NP_001836.3:n.3743-20G>A |