Linked Data
ClinVar Variation Id:
295196
dbSNP Id:
rs561885624
gnomAD v2:
1-209961190-A-T
gnomAD v3:
1-209787845-A-T
gnomAD v4:
1-209787845-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209787845A>T , CM000663.2:g.209787845A>T | GRCh38 |
| NC_000001.10:g.209961190A>T , CM000663.1:g.209961190A>T | GRCh37 |
| NC_000001.9:g.208027813A>T | NCBI36 |
| NG_007081.2:g.23290T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1400+579T>A | ENSP00000512426.1:n.1400+579T>A | |
| ENST00000696134.1:c.*1406T>A | ENSP00000512427.1:n.*1406T>A | |
| ENST00000367021.8:c.*575T>A MANE Select | ENSP00000355988.3:n.*575T>A | |
| ENST00000367021.7:c.*575T>A | ENSP00000355988.3:n.*575T>A | |
| ENST00000542854.5:c.*575T>A | ENSP00000440532.1:n.*575T>A | |
| NM_001206696.1:c.*575T>A | NP_001193625.1:n.*575T>A | |
| NM_006147.3:c.*575T>A | NP_006138.1:n.*575T>A | |
| NM_006147.4:c.*575T>A MANE Select | NP_006138.1:n.*575T>A | |
| NM_001206696.2:c.*575T>A | NP_001193625.1:n.*575T>A |