Revel Score:
ENST00000254108 (MANE Select)
0.683
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071659 (AMR)
Genomes Max Group AF
0.00136269 (AMR)
Exomes Max Group AF
0.0003935 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31185061C>T , CM000678.2:g.31185061C>T | GRCh38 |
| NC_000016.9:g.31196382C>T , CM000678.1:g.31196382C>T | GRCh37 |
| NC_000016.8:g.31103883C>T | NCBI36 |
| NG_012889.2:g.9930C>T , LRG_655:g.9930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.646C>T MANE Select | ENSP00000254108.8:p.Arg216Cys | |
| ENST00000254108.11:c.646C>T | ENSP00000254108.7:p.Arg216Cys | |
| ENST00000380244.7:c.643C>T | ENSP00000369594.3:p.Arg215Cys | |
| ENST00000487509.6:n.711C>T | ||
| ENST00000566605.5:c.646C>T | ENSP00000455073.1:p.Arg216Cys | |
| ENST00000568685.1:c.646C>T | ENSP00000455282.1:p.Arg216Cys | |
| NM_001170634.1:c.643C>T | NP_001164105.1:p.Arg215Cys | |
| NM_001170937.1:c.634C>T | NP_001164408.1:p.Arg212Cys | |
| NM_004960.3:c.646C>T , LRG_655t1:c.646C>T | NP_004951.1:p.Arg216Cys | |
| NR_028388.2:n.751C>T | ||
| XM_005255233.3:c.66C>T | XP_005255290.1:p.Ala22= | |
| XM_011545781.1:c.640C>T | XP_011544083.1:p.Arg214Cys | |
| XM_011545782.1:c.66C>T | XP_011544084.1:p.Ala22= | |
| XM_005255233.5:c.66C>T | XP_005255290.1:p.Ala22= | |
| XM_011545782.2:c.66C>T | XP_011544084.1:p.Ala22= | |
| XM_024450221.1:c.637C>T | XP_024305989.1:p.Arg213Cys | |
| NM_004960.4:c.646C>T MANE Select | NP_004951.1:p.Arg216Cys |