Revel Score:
ENST00000415567
0.480
ENST00000290167 (MANE Select)
0.867
ENST00000542383
0.867
ENST00000374655
0.867
ENST00000441048
0.867
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22129682G>A , CM000663.2:g.22129682G>A | GRCh38 |
| NC_000001.10:g.22456175G>A , CM000663.1:g.22456175G>A | GRCh37 |
| NC_000001.9:g.22328762G>A | NCBI36 |
| NG_008974.1:g.18345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.247C>T MANE Select | ENSP00000290167.5:p.Arg83Trp | |
| ENST00000290167.10:c.247C>T | ENSP00000290167.5:p.Arg83Trp | |
| ENST00000415567.1:c.170C>T | ||
| ENST00000441048.1:c.82C>T | ENSP00000388925.1:p.Arg28Trp | |
| NM_030761.4:c.247C>T | NP_110388.2:p.Arg83Trp | |
| XM_011541597.1:c.313C>T | XP_011539899.1:p.Arg105Trp | |
| XM_011541598.1:c.82C>T | XP_011539900.1:p.Arg28Trp | |
| XM_011541599.1:c.313C>T | XP_011539901.1:p.Arg105Trp | |
| XM_011541597.2:c.313C>T | XP_011539899.1:p.Arg105Trp | |
| XM_011541598.2:c.82C>T | XP_011539900.1:p.Arg28Trp | |
| NM_030761.5:c.247C>T MANE Select | NP_110388.2:p.Arg83Trp |