Revel Score:
ENST00000254854 (MANE Select)
0.799
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8014700C>T , CM000679.2:g.8014700C>T | GRCh38 |
| NC_000017.10:g.7918018C>T , CM000679.1:g.7918018C>T | GRCh37 |
| NC_000017.9:g.7858743C>T | NCBI36 |
| NG_009092.1:g.17031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2512C>T MANE Select | ENSP00000254854.4:p.Arg838Cys | |
| ENST00000254854.4:c.2512C>T | ENSP00000254854.4:p.Arg838Cys | |
| NM_000180.3:c.2512C>T | NP_000171.1:p.Arg838Cys | |
| XM_011523816.1:c.2512C>T | XP_011522118.1:p.Arg838Cys | |
| NM_000180.4:c.2512C>T MANE Select | NP_000171.1:p.Arg838Cys |