Revel Score:
ENST00000259938 (MANE Select)
0.027
ENST00000541088
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01012001 (NFE)
Genomes Max Group AF
0.01051466 (NFE)
Exomes Max Group AF
0.01006035 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35795160G>A , CM000668.2:g.35795160G>A | GRCh38 |
| NC_000006.11:g.35762937G>A , CM000668.1:g.35762937G>A | GRCh37 |
| NC_000006.10:g.35870915G>A | NCBI36 |
| NG_012184.3:g.2955G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259938.7:c.325C>T MANE Select | ENSP00000259938.2:p.Arg109Cys | |
| ENST00000259938.6:c.325C>T | ENSP00000259938.2:p.Arg109Cys | |
| ENST00000616014.3:c.202C>T | ENSP00000483589.1:p.Arg68Cys | |
| ENST00000622413.2:c.283C>T | ENSP00000482919.1:p.Arg95Cys | |
| NM_001252597.1:c.283C>T | NP_001239526.1:p.Arg95Cys | |
| NM_001252598.1:c.202C>T | NP_001239527.1:p.Arg68Cys | |
| NM_001832.3:c.325C>T | NP_001823.1:p.Arg109Cys | |
| NM_001252597.2:c.283C>T | NP_001239526.1:p.Arg95Cys | |
| NM_001832.4:c.325C>T MANE Select | NP_001823.1:p.Arg109Cys | |
| NM_001252598.2:c.202C>T | NP_001239527.1:p.Arg68Cys |