Linked Data
ClinVar Variation Id:
947924
ClinVar RCV Id:
RCV001219076
dbSNP Id:
rs1652986854
gnomAD v4:
1-119759992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119759992G>A , CM000663.2:g.119759992G>A | GRCh38 |
| NC_000001.10:g.120302615G>A , CM000663.1:g.120302615G>A | GRCh37 |
| NC_000001.9:g.120104138G>A | NCBI36 |
| NG_013348.1:g.13941C>T , LRG_447:g.13941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.560-3C>T MANE Select | ENSP00000358414.3:n.560-3C>T | |
| ENST00000369406.7:c.560-3C>T | ENSP00000358414.3:n.560-3C>T | |
| ENST00000476640.1:n.456-3C>T | ||
| ENST00000544913.2:c.560-710C>T | ENSP00000439495.2:n.560-710C>T | |
| NM_001166107.1:c.560-710C>T , LRG_447t2:c.560-710C>T | NP_001159579.1:n.560-710C>T | |
| NM_005518.3:c.560-3C>T , LRG_447t1:c.560-3C>T | NP_005509.1:n.560-3C>T | |
| XM_011541313.1:c.560-3C>T | XP_011539615.1:n.560-3C>T | |
| XM_011541313.2:c.560-3C>T | XP_011539615.1:n.560-3C>T | |
| NM_005518.4:c.560-3C>T MANE Select | NP_005509.1:n.560-3C>T |