Revel Score:
ENST00000361611 (MANE Select)
0.068
ENST00000493471
0.068
ENST00000460922
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09035314 (MID)
Genomes Max Group AF
0.07555004 (NFE)
Exomes Max Group AF
0.09127582 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23034812G>A , CM000676.2:g.23034812G>A | GRCh38 |
| NC_000014.8:g.23504021G>A , CM000676.1:g.23504021G>A | GRCh37 |
| NC_000014.7:g.22573861G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361611.11:c.70C>T MANE Select | ENSP00000355325.6:p.Arg24Cys | |
| ENST00000334454.10:c.70C>T | ENSP00000334973.10:p.Arg24Cys | |
| ENST00000361611.10:c.70C>T | ENSP00000355325.6:p.Arg24Cys | |
| ENST00000425762.2:c.-112+300C>T | ENSP00000395206.2:n.-112+300C>T | |
| ENST00000460922.2:c.70C>T | ENSP00000451286.1:p.Arg24Cys | |
| ENST00000493471.2:c.70C>T | ENSP00000452424.1:p.Arg24Cys | |
| NM_001130725.1:c.-112+300C>T | NP_001124197.1:n.-112+300C>T | |
| NM_001144932.2:c.70C>T | NP_001138404.1:p.Arg24Cys | |
| NM_002797.4:c.70C>T | NP_002788.1:p.Arg24Cys | |
| XM_005267871.2:c.70C>T | XP_005267928.1:p.Arg24Cys | |
| XM_005267871.3:c.70C>T | XP_005267928.1:p.Arg24Cys | |
| NM_002797.5:c.70C>T MANE Select | NP_002788.1:p.Arg24Cys | |
| NM_001144932.3:c.70C>T | NP_001138404.1:p.Arg24Cys |