ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027573 (AMR)
Genomes Max Group AF
0.00097459 (AMR)
Exomes Max Group AF
0.00003768 (SAS)
Revel Score:
ENST00000473763
0.366
ENST00000388918 (MANE Select)
0.366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12694273C>T , CM000671.2:g.12694273C>T | GRCh38 |
| NC_000009.11:g.12694273C>T , CM000671.1:g.12694273C>T | GRCh37 |
| NC_000009.10:g.12684273C>T | NCBI36 |
| NG_011705.1:g.5888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.277C>T MANE Select | ENSP00000373570.4:p.Arg93Cys | |
| ENST00000388918.9:c.277C>T | ENSP00000373570.4:p.Arg93Cys | |
| ENST00000459790.1:n.532C>T | ||
| ENST00000473763.1:c.277C>T | ENSP00000419006.1:p.Arg93Cys | |
| NM_000550.2:c.277C>T | NP_000541.1:p.Arg93Cys | |
| XR_001746372.2:n.466C>T | ||
| NM_000550.3:c.277C>T MANE Select | NP_000541.1:p.Arg93Cys |