Linked Data
ClinVar Variation Id:
7719
dbSNP Id:
rs80338707
ExAC:
16:8941632 G / A
gnomAD v2:
16-8941632-G-A
gnomAD v3:
16-8847775-G-A
gnomAD v4:
16-8847775-G-A
COSMIC:
COSM2923144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8847775G>A , CM000678.2:g.8847775G>A | GRCh38 |
| NC_000016.9:g.8941632G>A , CM000678.1:g.8941632G>A | GRCh37 |
| NC_000016.8:g.8849133G>A | NCBI36 |
| NG_009209.1:g.54963G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3859G>A | ||
| ENST00000682393.1:c.*258-1594G>A | ENSP00000506774.1:n.*258-1594G>A | |
| ENST00000683094.1:c.*262-1594G>A | ENSP00000508230.1:n.*262-1594G>A | |
| ENST00000683274.1:c.*180-1594G>A | ENSP00000507262.1:n.*180-1594G>A | |
| ENST00000683435.1:c.*587G>A | ENSP00000508092.1:n.*587G>A | |
| ENST00000268261.9:c.691G>A MANE Select | ENSP00000268261.4:p.Val231Met | |
| ENST00000268261.8:c.691G>A | ENSP00000268261.4:p.Val231Met | |
| ENST00000562025.1:n.225G>A | ||
| ENST00000562318.5:c.*413G>A | ENSP00000454395.1:n.*413G>A | |
| ENST00000565221.5:c.*309G>A | ENSP00000457932.1:n.*309G>A | |
| ENST00000566540.5:c.*313G>A | ENSP00000454284.1:n.*313G>A | |
| ENST00000566604.5:c.*231G>A | ENSP00000456774.1:n.*231G>A | |
| ENST00000566983.5:c.610G>A | ENSP00000457956.1:p.Val204Met | |
| ENST00000567697.1:n.3859G>A | ||
| ENST00000569958.5:c.418G>A | ENSP00000456302.1:p.Val140Met | |
| ENST00000570076.5:c.*149G>A | ENSP00000456961.1:n.*149G>A | |
| NM_000303.2:c.691G>A | NP_000294.1:p.Val231Met | |
| XM_005255374.3:c.442G>A | XP_005255431.1:p.Val148Met | |
| XM_011522538.1:c.640-7259G>A | XP_011520840.1:n.640-7259G>A | |
| XM_005255374.4:c.442G>A | XP_005255431.1:p.Val148Met | |
| NM_000303.3:c.691G>A MANE Select | NP_000294.1:p.Val231Met |