Linked Data
ClinVar Variation Id:
802668
dbSNP Id:
rs1398407708
gnomAD v3:
11-32400063-G-A
gnomAD v4:
11-32400063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400063G>A , CM000673.2:g.32400063G>A | GRCh38 |
| NC_000011.9:g.32421609G>A , CM000673.1:g.32421609G>A | GRCh37 |
| NC_000011.8:g.32378185G>A | NCBI36 |
| NG_009272.1:g.40479C>T , LRG_525:g.40479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.966-19C>T | ENSP00000331327.5:n.966-19C>T | |
| ENST00000379077.9:c.*201-19C>T | ENSP00000368368.5:n.*201-19C>T | |
| ENST00000379079.8:c.366-19C>T | ENSP00000368370.2:n.366-19C>T | |
| ENST00000448076.9:c.1017-19C>T | ENSP00000413452.5:n.1017-19C>T | |
| ENST00000452863.10:c.1017-19C>T MANE Select | ENSP00000415516.5:n.1017-19C>T | |
| ENST00000526685.2:n.471-19C>T | ||
| ENST00000639563.3:c.966-19C>T | ENSP00000492269.3:n.966-19C>T | |
| ENST00000639907.2:n.141C>T | ||
| ENST00000640146.2:c.342-19C>T | ENSP00000491984.2:n.342-19C>T | |
| ENST00000651794.1:n.760-19C>T | ||
| ENST00000652579.1:n.177-19C>T | ||
| ENST00000652724.1:n.207-19C>T | ||
| ENST00000332351.7:c.1002-19C>T | ENSP00000331327.3:n.1002-19C>T | |
| ENST00000379077.7:c.*201-19C>T | ENSP00000368368.3:n.*201-19C>T | |
| ENST00000379079.6:c.366-19C>T | ENSP00000368370.2:n.366-19C>T | |
| ENST00000448076.7:c.1002-19C>T | ENSP00000413452.3:n.1002-19C>T | |
| ENST00000452863.7:c.951-19C>T | ENSP00000415516.3:n.951-19C>T | |
| ENST00000526685.1:c.-172-19C>T | ENSP00000436292.1:n.-172-19C>T | |
| ENST00000527775.1:c.255-19C>T | ENSP00000435351.1:n.255-19C>T | |
| ENST00000527882.5:c.73-19C>T | ||
| ENST00000530998.5:c.315-19C>T | ENSP00000435307.1:n.315-19C>T | |
| NM_000378.4:c.951-19C>T | NP_000369.3:n.951-19C>T | |
| NM_001198551.1:c.366-19C>T , LRG_525t2:c.366-19C>T | NP_001185480.1:n.366-19C>T | |
| NM_001198552.1:c.315-19C>T | NP_001185481.1:n.315-19C>T | |
| NM_024424.3:c.1002-19C>T | NP_077742.2:n.1002-19C>T | |
| NM_024426.4:c.1002-19C>T | NP_077744.3:n.1002-19C>T | |
| NM_000378.5:c.966-19C>T | NP_000369.4:n.966-19C>T | |
| NM_024424.4:c.1017-19C>T | NP_077742.3:n.1017-19C>T | |
| NM_024426.5:c.1017-19C>T | NP_077744.4:n.1017-19C>T | |
| NM_001367854.1:c.-172-19C>T | NP_001354783.1:n.-172-19C>T | |
| NR_160306.1:n.1349-19C>T | ||
| NM_000378.6:c.966-19C>T | NP_000369.4:n.966-19C>T | |
| NM_001198552.2:c.315-19C>T | NP_001185481.1:n.315-19C>T | |
| NM_024424.5:c.1017-19C>T | NP_077742.3:n.1017-19C>T | |
| NM_024426.6:c.1017-19C>T MANE Select | NP_077744.4:n.1017-19C>T |