Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741169G>A , CM000670.2:g.142741169G>A | GRCh38 |
| NC_000008.10:g.143822587G>A , CM000670.1:g.143822587G>A | GRCh37 |
| NC_000008.9:g.143819589G>A | NCBI36 |
| NG_011494.1:g.6243C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020427.3:c.286C>T MANE Select | NP_065160.1:p.Arg96Ter |
| ENST00000246515.2:c.286C>T MANE Select | ENSP00000246515.1:p.Arg96Ter |
| NM_020427.2:c.286C>T | NP_065160.1:p.Arg96Ter |
| ENST00000246515.1:c.286C>T | ENSP00000246515.1:p.Arg96Ter |