Linked Data
ClinVar Variation Id:
304420
dbSNP Id:
rs374441355
ExAC:
11:32421605 A / G
gnomAD v2:
11-32421605-A-G
gnomAD v3:
11-32400059-A-G
gnomAD v4:
11-32400059-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400059A>G , CM000673.2:g.32400059A>G | GRCh38 |
| NC_000011.9:g.32421605A>G , CM000673.1:g.32421605A>G | GRCh37 |
| NC_000011.8:g.32378181A>G | NCBI36 |
| NG_009272.1:g.40483T>C , LRG_525:g.40483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.966-15T>C | ENSP00000331327.5:n.966-15T>C | |
| ENST00000379077.9:c.*201-15T>C | ENSP00000368368.5:n.*201-15T>C | |
| ENST00000379079.8:c.366-15T>C | ENSP00000368370.2:n.366-15T>C | |
| ENST00000448076.9:c.1017-15T>C | ENSP00000413452.5:n.1017-15T>C | |
| ENST00000452863.10:c.1017-15T>C MANE Select | ENSP00000415516.5:n.1017-15T>C | |
| ENST00000526685.2:n.471-15T>C | ||
| ENST00000639563.3:c.966-15T>C | ENSP00000492269.3:n.966-15T>C | |
| ENST00000639907.2:n.145T>C | ||
| ENST00000640146.2:c.342-15T>C | ENSP00000491984.2:n.342-15T>C | |
| ENST00000651794.1:n.760-15T>C | ||
| ENST00000652579.1:n.177-15T>C | ||
| ENST00000652724.1:n.207-15T>C | ||
| ENST00000332351.7:c.1002-15T>C | ENSP00000331327.3:n.1002-15T>C | |
| ENST00000379077.7:c.*201-15T>C | ENSP00000368368.3:n.*201-15T>C | |
| ENST00000379079.6:c.366-15T>C | ENSP00000368370.2:n.366-15T>C | |
| ENST00000448076.7:c.1002-15T>C | ENSP00000413452.3:n.1002-15T>C | |
| ENST00000452863.7:c.951-15T>C | ENSP00000415516.3:n.951-15T>C | |
| ENST00000526685.1:c.-172-15T>C | ENSP00000436292.1:n.-172-15T>C | |
| ENST00000527775.1:c.255-15T>C | ENSP00000435351.1:n.255-15T>C | |
| ENST00000527882.5:c.73-15T>C | ||
| ENST00000530998.5:c.315-15T>C | ENSP00000435307.1:n.315-15T>C | |
| NM_000378.4:c.951-15T>C | NP_000369.3:n.951-15T>C | |
| NM_001198551.1:c.366-15T>C , LRG_525t2:c.366-15T>C | NP_001185480.1:n.366-15T>C | |
| NM_001198552.1:c.315-15T>C | NP_001185481.1:n.315-15T>C | |
| NM_024424.3:c.1002-15T>C | NP_077742.2:n.1002-15T>C | |
| NM_024426.4:c.1002-15T>C | NP_077744.3:n.1002-15T>C | |
| NM_000378.5:c.966-15T>C | NP_000369.4:n.966-15T>C | |
| NM_024424.4:c.1017-15T>C | NP_077742.3:n.1017-15T>C | |
| NM_024426.5:c.1017-15T>C | NP_077744.4:n.1017-15T>C | |
| NM_001367854.1:c.-172-15T>C | NP_001354783.1:n.-172-15T>C | |
| NR_160306.1:n.1349-15T>C | ||
| NM_000378.6:c.966-15T>C | NP_000369.4:n.966-15T>C | |
| NM_001198552.2:c.315-15T>C | NP_001185481.1:n.315-15T>C | |
| NM_024424.5:c.1017-15T>C | NP_077742.3:n.1017-15T>C | |
| NM_024426.6:c.1017-15T>C MANE Select | NP_077744.4:n.1017-15T>C |