ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677537G>A , CM000671.2:g.136677537G>A | GRCh38 |
| NC_000009.11:g.139571989G>A , CM000671.1:g.139571989G>A | GRCh37 |
| NC_000009.10:g.138691810G>A | NCBI36 |
| NG_008090.1:g.14923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.202C>T MANE Select | ENSP00000360761.2:p.Arg68Ter | |
| ENST00000371694.7:c.202C>T | ENSP00000360759.3:p.Arg68Ter | |
| ENST00000371696.6:c.202C>T | ENSP00000360761.2:p.Arg68Ter | |
| ENST00000470861.1:n.210C>T | ||
| ENST00000538402.1:c.202C>T | ENSP00000438919.1:p.Arg68Ter | |
| NM_001012727.1:c.202C>T | NP_001012745.1:p.Arg68Ter | |
| NM_006412.3:c.202C>T | NP_006403.2:p.Arg68Ter | |
| NM_006412.4:c.202C>T MANE Select | NP_006403.2:p.Arg68Ter | |
| NM_001012727.2:c.202C>T | NP_001012745.1:p.Arg68Ter |