Revel Score:
ENST00000421097
0.927
ENST00000449624
0.927
ENST00000420359
0.927
ENST00000393818 (MANE Select)
0.927
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001994 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42565668C>T , CM000679.2:g.42565668C>T | GRCh38 |
| NC_000017.10:g.40717686C>T , CM000679.1:g.40717686C>T | GRCh37 |
| NC_000017.9:g.37971212C>T | NCBI36 |
| NG_029442.1:g.3609C>T | |
| NG_034110.1:g.8595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393818.3:c.1495C>T MANE Select | ENSP00000377406.1:p.Arg499Cys | |
| ENST00000393818.2:c.1495C>T | ENSP00000377406.1:p.Arg499Cys | |
| ENST00000421097.6:c.1495C>T | ENSP00000393564.2:p.Arg499Cys | |
| ENST00000590958.5:c.1582C>T | ENSP00000464814.1:p.Arg528Cys | |
| ENST00000591583.1:n.207C>T | ||
| ENST00000591753.1:n.1719C>T | ||
| NM_001042529.2:c.1495C>T | NP_001035994.1:p.Arg499Cys | |
| NM_001042532.3:c.1582C>T | NP_001035997.2:p.Arg528Cys | |
| NM_025233.6:c.1495C>T | NP_079509.5:p.Arg499Cys | |
| XM_006722116.2:c.1582C>T | XP_006722179.1:p.Arg528Cys | |
| XM_011525300.1:c.1495C>T | XP_011523602.1:p.Arg499Cys | |
| XM_011525301.1:c.*49C>T | XP_011523603.1:n.*49C>T | |
| XR_429926.1:n.1798C>T | ||
| XM_006722116.4:c.1582C>T | XP_006722179.1:p.Arg528Cys | |
| XM_011525300.2:c.1495C>T | XP_011523602.1:p.Arg499Cys | |
| NM_025233.7:c.1495C>T MANE Select | NP_079509.5:p.Arg499Cys | |
| NM_001042529.3:c.1495C>T | NP_001035994.1:p.Arg499Cys | |
| NM_001042532.4:c.1582C>T | NP_001035997.2:p.Arg528Cys |