Linked Data
ClinVar Variation Id:
41847
dbSNP Id:
rs142059681
ExAC:
11:32421544 A / G
gnomAD v2:
11-32421544-A-G
gnomAD v3:
11-32399998-A-G
gnomAD v4:
11-32399998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32399998A>G , CM000673.2:g.32399998A>G | GRCh38 |
| NC_000011.9:g.32421544A>G , CM000673.1:g.32421544A>G | GRCh37 |
| NC_000011.8:g.32378120A>G | NCBI36 |
| NG_009272.1:g.40544T>C , LRG_525:g.40544T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1012T>C | ENSP00000331327.5:p.Cys338Arg | |
| ENST00000379077.9:c.*247T>C | ENSP00000368368.5:n.*247T>C | |
| ENST00000379079.8:c.412T>C | ENSP00000368370.2:p.Cys138Arg | |
| ENST00000448076.9:c.1063T>C | ENSP00000413452.5:p.Cys355Arg | |
| ENST00000452863.10:c.1063T>C MANE Select | ENSP00000415516.5:p.Cys355Arg | |
| ENST00000526685.2:n.517T>C | ||
| ENST00000639563.3:c.1012T>C | ENSP00000492269.3:p.Cys338Arg | |
| ENST00000639907.2:n.206T>C | ||
| ENST00000640146.2:c.388T>C | ENSP00000491984.2:p.Cys130Arg | |
| ENST00000651794.1:n.806T>C | ||
| ENST00000652579.1:n.223T>C | ||
| ENST00000652724.1:n.253T>C | ||
| ENST00000332351.7:c.1048T>C | ENSP00000331327.3:p.Cys350Arg | |
| ENST00000379077.7:c.*247T>C | ENSP00000368368.3:n.*247T>C | |
| ENST00000379079.6:c.412T>C | ENSP00000368370.2:p.Cys138Arg | |
| ENST00000448076.7:c.1048T>C | ENSP00000413452.3:p.Cys350Arg | |
| ENST00000452863.7:c.997T>C | ENSP00000415516.3:p.Cys333Arg | |
| ENST00000526685.1:c.-126T>C | ENSP00000436292.1:n.-126T>C | |
| ENST00000527775.1:c.301T>C | ENSP00000435351.1:p.Cys101Arg | |
| ENST00000527882.5:c.119T>C | ||
| ENST00000530998.5:c.361T>C | ENSP00000435307.1:p.Cys121Arg | |
| NM_000378.4:c.997T>C | NP_000369.3:p.Cys333Arg | |
| NM_001198551.1:c.412T>C , LRG_525t2:c.412T>C | NP_001185480.1:p.Cys138Arg | |
| NM_001198552.1:c.361T>C | NP_001185481.1:p.Cys121Arg | |
| NM_024424.3:c.1048T>C | NP_077742.2:p.Cys350Arg | |
| NM_024426.4:c.1048T>C | NP_077744.3:p.Cys350Arg | |
| NM_000378.5:c.1012T>C | NP_000369.4:p.Cys338Arg | |
| NM_024424.4:c.1063T>C | NP_077742.3:p.Cys355Arg | |
| NM_024426.5:c.1063T>C | NP_077744.4:p.Cys355Arg | |
| NM_001367854.1:c.-126T>C | NP_001354783.1:n.-126T>C | |
| NR_160306.1:n.1395T>C | ||
| NM_000378.6:c.1012T>C | NP_000369.4:p.Cys338Arg | |
| NM_001198552.2:c.361T>C | NP_001185481.1:p.Cys121Arg | |
| NM_024424.5:c.1063T>C | NP_077742.3:p.Cys355Arg | |
| NM_024426.6:c.1063T>C MANE Select | NP_077744.4:p.Cys355Arg |