Linked Data
ClinVar Variation Id:
304408
dbSNP Id:
rs5030318
gnomAD v2:
11-32410259-C-T
gnomAD v3:
11-32388713-C-T
gnomAD v4:
11-32388713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32388713C>T , CM000673.2:g.32388713C>T | GRCh38 |
| NC_000011.9:g.32410259C>T , CM000673.1:g.32410259C>T | GRCh37 |
| NC_000011.8:g.32366835C>T | NCBI36 |
| NG_009272.1:g.51829G>A , LRG_525:g.51829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.*345G>A | ENSP00000331327.5:n.*345G>A | |
| ENST00000379077.9:c.*1098G>A | ENSP00000368368.5:n.*1098G>A | |
| ENST00000379079.8:c.*345G>A | ENSP00000368370.2:n.*345G>A | |
| ENST00000448076.9:c.*345G>A | ENSP00000413452.5:n.*345G>A | |
| ENST00000452863.10:c.*345G>A MANE Select | ENSP00000415516.5:n.*345G>A | |
| ENST00000639907.2:n.1048G>A | ||
| ENST00000640146.2:c.*345G>A | ENSP00000491984.2:n.*345G>A | |
| ENST00000650745.1:n.1724G>A | ||
| ENST00000650861.1:n.2486G>A | ||
| ENST00000651459.1:c.685G>A | ||
| ENST00000651533.1:n.951G>A | ||
| ENST00000651668.1:n.851G>A | ||
| ENST00000651794.1:n.1757G>A | ||
| ENST00000651819.1:n.839G>A | ||
| ENST00000652579.1:n.1174G>A | ||
| ENST00000652724.1:n.1104G>A | ||
| ENST00000332351.7:c.*345G>A | ENSP00000331327.3:n.*345G>A | |
| ENST00000379077.7:c.*1098G>A | ENSP00000368368.3:n.*1098G>A | |
| ENST00000379079.6:c.*345G>A | ENSP00000368370.2:n.*345G>A | |
| ENST00000448076.7:c.*345G>A | ENSP00000413452.3:n.*345G>A | |
| ENST00000452863.7:c.1839G>A | ENSP00000415516.3:n.1839G>A | |
| ENST00000530998.5:c.*345G>A | ENSP00000435307.1:n.*345G>A | |
| NM_000378.4:c.*345G>A | NP_000369.3:n.*345G>A | |
| NM_001198551.1:c.*345G>A , LRG_525t2:c.*345G>A | NP_001185480.1:n.*345G>A | |
| NM_001198552.1:c.*345G>A | NP_001185481.1:n.*345G>A | |
| NM_024424.3:c.*345G>A | NP_077742.2:n.*345G>A | |
| NM_024426.4:c.*345G>A | NP_077744.3:n.*345G>A | |
| NM_000378.5:c.*345G>A | NP_000369.4:n.*345G>A | |
| NM_024424.4:c.*345G>A | NP_077742.3:n.*345G>A | |
| NM_024426.5:c.*345G>A | NP_077744.4:n.*345G>A | |
| NM_001367854.1:c.*345G>A | NP_001354783.1:n.*345G>A | |
| NR_160306.1:n.2246G>A | ||
| NM_000378.6:c.*345G>A | NP_000369.4:n.*345G>A | |
| NM_001198552.2:c.*345G>A | NP_001185481.1:n.*345G>A | |
| NM_024424.5:c.*345G>A | NP_077742.3:n.*345G>A | |
| NM_024426.6:c.*345G>A MANE Select | NP_077744.4:n.*345G>A |