Revel Score:
ENST00000284425 (MANE Select)
0.784
ENST00000446604
0.784
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02045861 (NFE)
Genomes Max Group AF
0.01745805 (NFE)
Exomes Max Group AF
0.02059644 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.69085137A>G , CM000679.2:g.69085137A>G | GRCh38 |
| NC_000017.10:g.67081278A>G , CM000679.1:g.67081278A>G | GRCh37 |
| NC_000017.9:g.64592873A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284425.7:c.4075T>C MANE Select | ENSP00000284425.1:p.Cys1359Arg | |
| ENST00000284425.6:c.4075T>C | ENSP00000284425.1:p.Cys1359Arg | |
| ENST00000446604.6:n.1341T>C | ||
| NM_080284.2:c.4075T>C | NP_525023.2:p.Cys1359Arg | |
| XM_006721791.2:c.3955T>C | XP_006721854.1:p.Cys1319Arg | |
| XM_006721793.2:c.3124T>C | XP_006721856.1:p.Cys1042Arg | |
| XM_011524573.1:c.4075T>C | XP_011522875.1:p.Cys1359Arg | |
| XM_011524574.1:c.3124T>C | XP_011522876.1:p.Cys1042Arg | |
| XM_011524574.2:c.3124T>C | XP_011522876.1:p.Cys1042Arg | |
| XM_017024404.2:c.4075T>C | XP_016879893.1:p.Cys1359Arg | |
| XM_017024405.2:c.4075T>C | XP_016879894.1:p.Cys1359Arg | |
| XM_017024406.1:c.3490T>C | XP_016879895.1:p.Cys1164Arg | |
| XM_017024407.1:c.3490T>C | XP_016879896.1:p.Cys1164Arg | |
| XM_017024408.2:c.2020T>C | XP_016879897.1:p.Cys674Arg | |
| XM_024450683.1:c.4075T>C | XP_024306451.1:p.Cys1359Arg | |
| NM_080284.3:c.4075T>C MANE Select | NP_525023.2:p.Cys1359Arg |