Linked Data
ClinVar Variation Id:
406687
dbSNP Id:
rs150194429
ExAC:
11:32421507 A / C
gnomAD v2:
11-32421507-A-C
gnomAD v3:
11-32399961-A-C
gnomAD v4:
11-32399961-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32399961A>C , CM000673.2:g.32399961A>C | GRCh38 |
| NC_000011.9:g.32421507A>C , CM000673.1:g.32421507A>C | GRCh37 |
| NC_000011.8:g.32378083A>C | NCBI36 |
| NG_009272.1:g.40581T>G , LRG_525:g.40581T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1049T>G | ENSP00000331327.5:p.Phe350Cys | |
| ENST00000379077.9:c.*284T>G | ENSP00000368368.5:n.*284T>G | |
| ENST00000379079.8:c.449T>G | ENSP00000368370.2:p.Phe150Cys | |
| ENST00000448076.9:c.1100T>G | ENSP00000413452.5:p.Phe367Cys | |
| ENST00000452863.10:c.1100T>G MANE Select | ENSP00000415516.5:p.Phe367Cys | |
| ENST00000526685.2:n.554T>G | ||
| ENST00000639563.3:c.1049T>G | ENSP00000492269.3:p.Phe350Cys | |
| ENST00000639907.2:n.243T>G | ||
| ENST00000640146.2:c.425T>G | ENSP00000491984.2:p.Phe142Cys | |
| ENST00000651459.1:c.22T>G | ||
| ENST00000651794.1:n.843T>G | ||
| ENST00000652579.1:n.260T>G | ||
| ENST00000652724.1:n.290T>G | ||
| ENST00000332351.7:c.1085T>G | ENSP00000331327.3:p.Phe362Cys | |
| ENST00000379077.7:c.*284T>G | ENSP00000368368.3:n.*284T>G | |
| ENST00000379079.6:c.449T>G | ENSP00000368370.2:p.Phe150Cys | |
| ENST00000448076.7:c.1085T>G | ENSP00000413452.3:p.Phe362Cys | |
| ENST00000452863.7:c.1034T>G | ENSP00000415516.3:p.Phe345Cys | |
| ENST00000526685.1:c.-89T>G | ENSP00000436292.1:n.-89T>G | |
| ENST00000527775.1:c.338T>G | ENSP00000435351.1:p.Phe113Cys | |
| ENST00000527882.5:c.156T>G | ||
| ENST00000530998.5:c.398T>G | ENSP00000435307.1:p.Phe133Cys | |
| NM_000378.4:c.1034T>G | NP_000369.3:p.Phe345Cys | |
| NM_001198551.1:c.449T>G , LRG_525t2:c.449T>G | NP_001185480.1:p.Phe150Cys | |
| NM_001198552.1:c.398T>G | NP_001185481.1:p.Phe133Cys | |
| NM_024424.3:c.1085T>G | NP_077742.2:p.Phe362Cys | |
| NM_024426.4:c.1085T>G | NP_077744.3:p.Phe362Cys | |
| NM_000378.5:c.1049T>G | NP_000369.4:p.Phe350Cys | |
| NM_024424.4:c.1100T>G | NP_077742.3:p.Phe367Cys | |
| NM_024426.5:c.1100T>G | NP_077744.4:p.Phe367Cys | |
| NM_001367854.1:c.-89T>G | NP_001354783.1:n.-89T>G | |
| NR_160306.1:n.1432T>G | ||
| NM_000378.6:c.1049T>G | NP_000369.4:p.Phe350Cys | |
| NM_001198552.2:c.398T>G | NP_001185481.1:p.Phe133Cys | |
| NM_024424.5:c.1100T>G | NP_077742.3:p.Phe367Cys | |
| NM_024426.6:c.1100T>G MANE Select | NP_077744.4:p.Phe367Cys |