Linked Data
ClinVar Variation Id:
345230
ClinVar RCV Id:
RCV000372166
dbSNP Id:
rs886058489
gnomAD v2:
3-43760326-T-A
gnomAD v3:
3-43718834-T-A
gnomAD v4:
3-43718834-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43718834T>A , CM000665.2:g.43718834T>A | GRCh38 |
| NC_000003.11:g.43760326T>A , CM000665.1:g.43760326T>A | GRCh37 |
| NC_000003.10:g.43735330T>A | NCBI36 |
| NG_007090.3:g.32952T>A | |
| NG_007090.5:g.32965T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454293.2:c.*29+273T>A | ENSP00000412014.2:n.*29+273T>A | |
| ENST00000463153.2:c.306+273T>A | ||
| ENST00000642351.1:c.*302T>A | ENSP00000494478.1:n.*302T>A | |
| ENST00000643140.1:c.*714T>A | ENSP00000495588.1:n.*714T>A | |
| ENST00000643477.1:c.*813T>A | ENSP00000496220.1:n.*813T>A | |
| ENST00000643520.1:n.1518T>A | ||
| ENST00000644371.2:c.*302T>A MANE Select | ENSP00000495778.1:n.*302T>A | |
| ENST00000646378.1:c.*1402T>A | ENSP00000495826.1:n.*1402T>A | |
| ENST00000646799.1:c.*639T>A | ENSP00000494829.1:n.*639T>A | |
| ENST00000649763.1:c.*29+273T>A | ENSP00000497701.1:n.*29+273T>A | |
| ENST00000458276.6:c.*302T>A | ENSP00000390849.2:n.*302T>A | |
| ENST00000463153.1:n.309+273T>A | ||
| NM_016006.4:c.*302T>A | NP_057090.2:n.*302T>A | |
| XM_011533779.1:c.*302T>A | XP_011532081.1:n.*302T>A | |
| XM_011533780.1:c.*328T>A | XP_011532082.1:n.*328T>A | |
| XR_940447.1:n.1297T>A | ||
| NM_001355186.1:c.*29+273T>A | NP_001342115.1:n.*29+273T>A | |
| NM_001365649.1:c.*302T>A | NP_001352578.1:n.*302T>A | |
| NM_001365650.1:c.*328T>A | NP_001352579.1:n.*328T>A | |
| NM_016006.5:c.*302T>A | NP_057090.2:n.*302T>A | |
| NR_158560.1:n.1363T>A | ||
| NM_001355186.2:c.*29+273T>A | NP_001342115.1:n.*29+273T>A | |
| NM_016006.6:c.*302T>A MANE Select | NP_057090.2:n.*302T>A |