Linked Data
ClinVar Variation Id:
304403
dbSNP Id:
rs575602262
gnomAD v2:
11-32410091-G-A
gnomAD v3:
11-32388545-G-A
gnomAD v4:
11-32388545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32388545G>A , CM000673.2:g.32388545G>A | GRCh38 |
| NC_000011.9:g.32410091G>A , CM000673.1:g.32410091G>A | GRCh37 |
| NC_000011.8:g.32366667G>A | NCBI36 |
| NG_009272.1:g.51997C>T , LRG_525:g.51997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.*513C>T | ENSP00000331327.5:n.*513C>T | |
| ENST00000379077.9:c.*1266C>T | ENSP00000368368.5:n.*1266C>T | |
| ENST00000379079.8:c.*513C>T | ENSP00000368370.2:n.*513C>T | |
| ENST00000452863.10:c.*513C>T MANE Select | ENSP00000415516.5:n.*513C>T | |
| ENST00000639907.2:n.1216C>T | ||
| ENST00000640146.2:c.*513C>T | ENSP00000491984.2:n.*513C>T | |
| ENST00000650745.1:n.1892C>T | ||
| ENST00000650861.1:n.2654C>T | ||
| ENST00000651459.1:c.853C>T | ||
| ENST00000651533.1:n.1119C>T | ||
| ENST00000651668.1:n.1019C>T | ||
| ENST00000651794.1:n.1925C>T | ||
| ENST00000651819.1:n.1007C>T | ||
| ENST00000652579.1:n.1342C>T | ||
| ENST00000652724.1:n.1272C>T | ||
| ENST00000332351.7:c.*513C>T | ENSP00000331327.3:n.*513C>T | |
| ENST00000379077.7:c.*1266C>T | ENSP00000368368.3:n.*1266C>T | |
| ENST00000379079.6:c.*513C>T | ENSP00000368370.2:n.*513C>T | |
| ENST00000452863.7:c.2007C>T | ENSP00000415516.3:n.2007C>T | |
| ENST00000530998.5:c.*513C>T | ENSP00000435307.1:n.*513C>T | |
| NM_000378.4:c.*513C>T | NP_000369.3:n.*513C>T | |
| NM_001198551.1:c.*513C>T , LRG_525t2:c.*513C>T | NP_001185480.1:n.*513C>T | |
| NM_001198552.1:c.*513C>T | NP_001185481.1:n.*513C>T | |
| NM_024424.3:c.*513C>T | NP_077742.2:n.*513C>T | |
| NM_024426.4:c.*513C>T | NP_077744.3:n.*513C>T | |
| NM_000378.5:c.*513C>T | NP_000369.4:n.*513C>T | |
| NM_024424.4:c.*513C>T | NP_077742.3:n.*513C>T | |
| NM_024426.5:c.*513C>T | NP_077744.4:n.*513C>T | |
| NM_001367854.1:c.*513C>T | NP_001354783.1:n.*513C>T | |
| NR_160306.1:n.2414C>T | ||
| NM_000378.6:c.*513C>T | NP_000369.4:n.*513C>T | |
| NM_001198552.2:c.*513C>T | NP_001185481.1:n.*513C>T | |
| NM_024424.5:c.*513C>T | NP_077742.3:n.*513C>T | |
| NM_024426.6:c.*513C>T MANE Select | NP_077744.4:n.*513C>T |