Revel Score:
ENST00000371712 (MANE Select)
0.903
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002585 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00002474 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136430410G>A , CM000671.2:g.136430410G>A | GRCh38 |
| NC_000009.11:g.139324862G>A , CM000671.1:g.139324862G>A | GRCh37 |
| NC_000009.10:g.138444683G>A | NCBI36 |
| NG_016126.1:g.14395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1669C>T MANE Select | ENSP00000360777.3:p.Arg557Cys | |
| ENST00000674693.1:n.186C>T | ||
| ENST00000676019.1:c.1567C>T | ENSP00000501984.1:p.Arg523Cys | |
| ENST00000371712.3:c.1669C>T | ENSP00000360777.3:p.Arg557Cys | |
| NM_019892.4:c.1669C>T | NP_063945.2:p.Arg557Cys | |
| XM_005266094.2:c.1666C>T | XP_005266151.1:p.Arg556Cys | |
| NM_001318502.1:c.1666C>T | NP_001305431.1:p.Arg556Cys | |
| NM_019892.5:c.1669C>T | NP_063945.2:p.Arg557Cys | |
| XM_017014926.1:c.1669C>T | XP_016870415.1:p.Arg557Cys | |
| XR_929828.2:n.2274C>T | ||
| NM_019892.6:c.1669C>T MANE Select | NP_063945.2:p.Arg557Cys | |
| NM_001318502.2:c.1666C>T | NP_001305431.1:p.Arg556Cys |