Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511045A>G , CM000678.2:g.86511045A>G | GRCh38 |
| NC_000016.9:g.86544651A>G , CM000678.1:g.86544651A>G | GRCh37 |
| NC_000016.8:g.85102152A>G | NCBI36 |
| NG_016273.1:g.5519A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.476A>G MANE Select | NP_001442.2:p.Asn159Ser |
| ENST00000262426.6:c.476A>G MANE Select | ENSP00000262426.4:p.Asn159Ser |
| NM_001451.2:c.476A>G | NP_001442.2:p.Asn159Ser |
| ENST00000262426.5:c.476A>G | ENSP00000262426.4:p.Asn159Ser |