Revel Score:
ENST00000334909
0.887
ENST00000352480 (MANE Select)
0.887
ENST00000372394
0.887
ENST00000372393
0.887
ENST00000372386
0.887
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480404C>T , CM000671.2:g.130480404C>T | GRCh38 |
| NC_000009.11:g.133355791C>T , CM000671.1:g.133355791C>T | GRCh37 |
| NC_000009.10:g.132345612C>T | NCBI36 |
| NG_011542.1:g.40698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.793C>T MANE Select | ENSP00000253004.6:p.Arg265Cys | |
| ENST00000352480.9:c.793C>T | ENSP00000253004.6:p.Arg265Cys | |
| ENST00000372386.6:n.64C>T | ||
| ENST00000372393.7:c.793C>T | ENSP00000361469.2:p.Arg265Cys | |
| ENST00000372394.5:c.793C>T | ENSP00000361471.1:p.Arg265Cys | |
| ENST00000470849.4:n.518C>T | ||
| ENST00000492400.5:n.302C>T | ||
| ENST00000493984.6:n.570C>T | ||
| NM_000050.4:c.793C>T | NP_000041.2:p.Arg265Cys | |
| NM_054012.3:c.793C>T | NP_446464.1:p.Arg265Cys | |
| XM_005272200.2:c.793C>T | XP_005272257.1:p.Arg265Cys | |
| XM_011518705.1:c.907C>T | XP_011517007.1:p.Arg303Cys | |
| XM_005272200.3:c.793C>T | XP_005272257.1:p.Arg265Cys | |
| XM_011518705.2:c.907C>T | XP_011517007.1:p.Arg303Cys | |
| XM_017014729.1:c.889C>T | XP_016870218.1:p.Arg297Cys | |
| NM_054012.4:c.793C>T MANE Select | NP_446464.1:p.Arg265Cys |