Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71575923G>A , CM000678.2:g.71575923G>A | GRCh38 |
| NC_000016.9:g.71609826G>A , CM000678.1:g.71609826G>A | GRCh37 |
| NC_000016.8:g.70167327G>A | NCBI36 |
| NG_008235.1:g.6173C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.339C>T MANE Select | NP_000344.1:p.Ile113= |
| ENST00000355962.5:c.339C>T MANE Select | ENSP00000348234.4:p.Ile113= |
| NM_000353.2:c.339C>T | NP_000344.1:p.Ile113= |
| ENST00000355962.4:c.339C>T | ENSP00000348234.4:p.Ile113= |
| ENST00000566010.1:n.589C>T | |
| ENST00000566094.5:n.435C>T |