Linked Data
ClinVar Variation Id:
476710
dbSNP Id:
rs780259089
ExAC:
11:32450170 G / A
gnomAD v2:
11-32450170-G-A
gnomAD v3:
11-32428624-G-A
gnomAD v4:
11-32428624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32428624G>A , CM000673.2:g.32428624G>A | GRCh38 |
| NC_000011.9:g.32450170G>A , CM000673.1:g.32450170G>A | GRCh37 |
| NC_000011.8:g.32406746G>A | NCBI36 |
| NG_009272.1:g.11918C>T , LRG_525:g.11918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.662-5C>T | ENSP00000331327.5:n.662-5C>T | |
| ENST00000379077.9:c.662-5C>T | ENSP00000368368.5:n.662-5C>T | |
| ENST00000379079.8:c.11-5C>T | ENSP00000368370.2:n.11-5C>T | |
| ENST00000448076.9:c.662-5C>T | ENSP00000413452.5:n.662-5C>T | |
| ENST00000452863.10:c.662-5C>T MANE Select | ENSP00000415516.5:n.662-5C>T | |
| ENST00000639563.3:c.662-5C>T | ENSP00000492269.3:n.662-5C>T | |
| ENST00000640146.2:c.38-5C>T | ENSP00000491984.2:n.38-5C>T | |
| ENST00000332351.7:c.647-5C>T | ENSP00000331327.3:n.647-5C>T | |
| ENST00000379077.7:c.647-5C>T | ENSP00000368368.3:n.647-5C>T | |
| ENST00000379079.6:c.11-5C>T | ENSP00000368370.2:n.11-5C>T | |
| ENST00000448076.7:c.647-5C>T | ENSP00000413452.3:n.647-5C>T | |
| ENST00000452863.7:c.647-5C>T | ENSP00000415516.3:n.647-5C>T | |
| ENST00000527775.1:c.-101-5C>T | ENSP00000435351.1:n.-101-5C>T | |
| ENST00000530998.5:c.11-5C>T | ENSP00000435307.1:n.11-5C>T | |
| NM_000378.4:c.647-5C>T | NP_000369.3:n.647-5C>T | |
| NM_001198551.1:c.11-5C>T , LRG_525t2:c.11-5C>T | NP_001185480.1:n.11-5C>T | |
| NM_001198552.1:c.11-5C>T | NP_001185481.1:n.11-5C>T | |
| NM_024424.3:c.647-5C>T | NP_077742.2:n.647-5C>T | |
| NM_024426.4:c.647-5C>T | NP_077744.3:n.647-5C>T | |
| NM_000378.5:c.662-5C>T | NP_000369.4:n.662-5C>T | |
| NM_024424.4:c.662-5C>T | NP_077742.3:n.662-5C>T | |
| NM_024426.5:c.662-5C>T | NP_077744.4:n.662-5C>T | |
| NR_160306.1:n.841-5C>T | ||
| NM_000378.6:c.662-5C>T | NP_000369.4:n.662-5C>T | |
| NM_001198552.2:c.11-5C>T | NP_001185481.1:n.11-5C>T | |
| NM_024424.5:c.662-5C>T | NP_077742.3:n.662-5C>T | |
| NM_024426.6:c.662-5C>T MANE Select | NP_077744.4:n.662-5C>T |