Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71576247G>A , CM000678.2:g.71576247G>A | GRCh38 |
| NC_000016.9:g.71610150G>A , CM000678.1:g.71610150G>A | GRCh37 |
| NC_000016.8:g.70167651G>A | NCBI36 |
| NG_008235.1:g.5849C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.169C>T MANE Select | NP_000344.1:p.Arg57Ter |
| ENST00000355962.5:c.169C>T MANE Select | ENSP00000348234.4:p.Arg57Ter |
| NM_000353.2:c.169C>T | NP_000344.1:p.Arg57Ter |
| ENST00000355962.4:c.169C>T | ENSP00000348234.4:p.Arg57Ter |
| ENST00000566010.1:n.265C>T | |
| ENST00000566094.5:n.265C>T |