Linked Data
ClinVar Variation Id:
203781
ClinVar RCV Id:
RCV000185974
dbSNP Id:
rs796051979
gnomAD v3:
1-119759862-A-T
gnomAD v4:
1-119759862-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119759862A>T , CM000663.2:g.119759862A>T | GRCh38 |
| NC_000001.10:g.120302485A>T , CM000663.1:g.120302485A>T | GRCh37 |
| NC_000001.9:g.120104008A>T | NCBI36 |
| NG_013348.1:g.14071T>A , LRG_447:g.14071T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369406.8:c.685+2T>A MANE Select | ENSP00000358414.3:n.685+2T>A | |
| ENST00000369406.7:c.685+2T>A | ENSP00000358414.3:n.685+2T>A | |
| ENST00000476640.1:n.581+2T>A | ||
| ENST00000544913.2:c.560-580T>A | ENSP00000439495.2:n.560-580T>A | |
| NM_001166107.1:c.560-580T>A , LRG_447t2:c.560-580T>A | NP_001159579.1:n.560-580T>A | |
| NM_005518.3:c.685+2T>A , LRG_447t1:c.685+2T>A | NP_005509.1:n.685+2T>A | |
| XM_011541313.1:c.685+2T>A | XP_011539615.1:n.685+2T>A | |
| XM_011541313.2:c.685+2T>A | XP_011539615.1:n.685+2T>A | |
| NM_005518.4:c.685+2T>A MANE Select | NP_005509.1:n.685+2T>A |