Revel Score:
ENST00000379996
0.345
ENST00000379989
0.345
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001917 (NFE)
Exomes Max Group AF
0.00002258 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628446C>T , CM000685.2:g.18628446C>T | GRCh38 |
| NC_000023.10:g.18646566C>T , CM000685.1:g.18646566C>T | GRCh37 |
| NC_000023.9:g.18556487C>T | NCBI36 |
| NG_008475.1:g.207842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2572C>T MANE Select | ENSP00000485244.1:p.Arg858Cys | |
| ENST00000674046.1:c.2695C>T | ENSP00000501174.1:p.Arg899Cys | |
| ENST00000379989.6:c.2572C>T | ENSP00000369325.3:p.Arg858Cys | |
| ENST00000379996.7:c.2572C>T | ENSP00000369332.3:p.Arg858Cys | |
| ENST00000623535.1:c.2572C>T | ENSP00000485244.1:p.Arg858Cys | |
| NM_001037343.1:c.2572C>T | NP_001032420.1:p.Arg858Cys | |
| NM_003159.2:c.2572C>T | NP_003150.1:p.Arg858Cys | |
| XM_011545569.1:c.2644C>T | XP_011543871.1:p.Arg882Cys | |
| XM_011545570.1:c.2563C>T | XP_011543872.1:p.Arg855Cys | |
| XR_950484.1:n.2947C>T | ||
| NM_001323289.1:c.2572C>T | NP_001310218.1:p.Arg858Cys | |
| NM_001323289.2:c.2572C>T MANE Select | NP_001310218.1:p.Arg858Cys | |
| NM_001037343.2:c.2572C>T | NP_001032420.1:p.Arg858Cys | |
| NM_003159.3:c.2572C>T | NP_003150.1:p.Arg858Cys |