Linked Data
ClinVar Variation Id:
414080
dbSNP Id:
rs147939483
ExAC:
11:32417885 G / A
gnomAD v2:
11-32417885-G-A
gnomAD v3:
11-32396339-G-A
gnomAD v4:
11-32396339-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396339G>A , CM000673.2:g.32396339G>A | GRCh38 |
| NC_000011.9:g.32417885G>A , CM000673.1:g.32417885G>A | GRCh37 |
| NC_000011.8:g.32374461G>A | NCBI36 |
| NG_009272.1:g.44203C>T , LRG_525:g.44203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1131C>T | ENSP00000331327.5:p.Arg377= | |
| ENST00000379077.9:c.*366C>T | ENSP00000368368.5:n.*366C>T | |
| ENST00000379079.8:c.531C>T | ENSP00000368370.2:p.Arg177= | |
| ENST00000448076.9:c.1182C>T | ENSP00000413452.5:p.Arg394= | |
| ENST00000452863.10:c.1182C>T MANE Select | ENSP00000415516.5:p.Arg394= | |
| ENST00000526685.2:n.636C>T | ||
| ENST00000639563.3:c.1131C>T | ENSP00000492269.3:p.Arg377= | |
| ENST00000639907.2:n.325C>T | ||
| ENST00000640146.2:c.507C>T | ENSP00000491984.2:p.Arg169= | |
| ENST00000650861.1:n.1763C>T | ||
| ENST00000651459.1:c.36-3584C>T | ||
| ENST00000651668.1:n.119C>T | ||
| ENST00000651794.1:n.925C>T | ||
| ENST00000651819.1:n.107C>T | ||
| ENST00000652579.1:n.342C>T | ||
| ENST00000652724.1:n.372C>T | ||
| ENST00000332351.7:c.1167C>T | ENSP00000331327.3:p.Arg389= | |
| ENST00000379077.7:c.*366C>T | ENSP00000368368.3:n.*366C>T | |
| ENST00000379079.6:c.531C>T | ENSP00000368370.2:p.Arg177= | |
| ENST00000448076.7:c.1167C>T | ENSP00000413452.3:p.Arg389= | |
| ENST00000452863.7:c.1116C>T | ENSP00000415516.3:p.Arg372= | |
| ENST00000526685.1:c.-7C>T | ENSP00000436292.1:n.-7C>T | |
| ENST00000527882.5:c.238C>T | ||
| ENST00000530998.5:c.480C>T | ENSP00000435307.1:p.Arg160= | |
| NM_000378.4:c.1116C>T | NP_000369.3:p.Arg372= | |
| NM_001198551.1:c.531C>T , LRG_525t2:c.531C>T | NP_001185480.1:p.Arg177= | |
| NM_001198552.1:c.480C>T | NP_001185481.1:p.Arg160= | |
| NM_024424.3:c.1167C>T | NP_077742.2:p.Arg389= | |
| NM_024426.4:c.1167C>T | NP_077744.3:p.Arg389= | |
| NM_000378.5:c.1131C>T | NP_000369.4:p.Arg377= | |
| NM_024424.4:c.1182C>T | NP_077742.3:p.Arg394= | |
| NM_024426.5:c.1182C>T | NP_077744.4:p.Arg394= | |
| NM_001367854.1:c.-7C>T | NP_001354783.1:n.-7C>T | |
| NR_160306.1:n.1514C>T | ||
| NM_000378.6:c.1131C>T | NP_000369.4:p.Arg377= | |
| NM_001198552.2:c.480C>T | NP_001185481.1:p.Arg160= | |
| NM_024424.5:c.1182C>T | NP_077742.3:p.Arg394= | |
| NM_024426.6:c.1182C>T MANE Select | NP_077744.4:p.Arg394= |