Linked Data
ClinVar Variation Id:
3493
ClinVar RCV Id:
RCV000003665
RCV000030876
RCV000208283
RCV000589623
RCV000705142
RCV001290018
RCV001288155
RCV002482822
RCV004547457
dbSNP Id:
rs587776576
gnomAD v4:
11-32391967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32391967C>T , CM000673.2:g.32391967C>T | GRCh38 |
| NC_000011.9:g.32413513C>T , CM000673.1:g.32413513C>T | GRCh37 |
| NC_000011.8:g.32370089C>T | NCBI36 |
| NG_009272.1:g.48575G>A , LRG_525:g.48575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1387+14G>A | ENSP00000331327.5:n.1387+14G>A | |
| ENST00000379077.9:c.*631+5G>A | ENSP00000368368.5:n.*631+5G>A | |
| ENST00000379079.8:c.787+14G>A | ENSP00000368370.2:n.787+14G>A | |
| ENST00000448076.9:c.1438+14G>A | ENSP00000413452.5:n.1438+14G>A | |
| ENST00000452863.10:c.1447+5G>A MANE Select | ENSP00000415516.5:n.1447+5G>A | |
| ENST00000526685.2:n.892+14G>A | ||
| ENST00000639563.3:c.1396+5G>A | ENSP00000492269.3:n.1396+5G>A | |
| ENST00000639907.2:n.581+14G>A | ||
| ENST00000640146.2:c.772+5G>A | ENSP00000491984.2:n.772+5G>A | |
| ENST00000650745.1:n.1257+5G>A | ||
| ENST00000650861.1:n.2019+14G>A | ||
| ENST00000650986.1:n.110+5G>A | ||
| ENST00000651459.1:c.218+5G>A | ||
| ENST00000651533.1:n.484+14G>A | ||
| ENST00000651668.1:n.384+5G>A | ||
| ENST00000651794.1:n.1290+5G>A | ||
| ENST00000651819.1:n.372+5G>A | ||
| ENST00000652579.1:n.707+5G>A | ||
| ENST00000652724.1:n.637+5G>A | ||
| ENST00000332351.7:c.1432+5G>A | ENSP00000331327.3:n.1432+5G>A | |
| ENST00000379077.7:c.*631+5G>A | ENSP00000368368.3:n.*631+5G>A | |
| ENST00000379079.6:c.787+14G>A | ENSP00000368370.2:n.787+14G>A | |
| ENST00000448076.7:c.1423+14G>A | ENSP00000413452.3:n.1423+14G>A | |
| ENST00000452863.7:c.1372+14G>A | ENSP00000415516.3:n.1372+14G>A | |
| ENST00000527882.5:c.413+5G>A | ||
| ENST00000530998.5:c.745+5G>A | ENSP00000435307.1:n.745+5G>A | |
| NM_000378.4:c.1372+14G>A | NP_000369.3:n.1372+14G>A | |
| NM_001198551.1:c.787+14G>A , LRG_525t2:c.787+14G>A | NP_001185480.1:n.787+14G>A | |
| NM_001198552.1:c.745+5G>A | NP_001185481.1:n.745+5G>A | |
| NM_024424.3:c.1423+14G>A | NP_077742.2:n.1423+14G>A | |
| NM_024426.4:c.1432+5G>A | NP_077744.3:n.1432+5G>A | |
| NM_000378.5:c.1387+14G>A | NP_000369.4:n.1387+14G>A | |
| NM_024424.4:c.1438+14G>A | NP_077742.3:n.1438+14G>A | |
| NM_024426.5:c.1447+5G>A | NP_077744.4:n.1447+5G>A | |
| NM_001367854.1:c.259+5G>A | NP_001354783.1:n.259+5G>A | |
| NR_160306.1:n.1779+5G>A | ||
| NM_000378.6:c.1387+14G>A | NP_000369.4:n.1387+14G>A | |
| NM_001198552.2:c.745+5G>A | NP_001185481.1:n.745+5G>A | |
| NM_024424.5:c.1438+14G>A | NP_077742.3:n.1438+14G>A | |
| NM_024426.6:c.1447+5G>A MANE Select | NP_077744.4:n.1447+5G>A |