Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85678309T>G , CM000678.2:g.85678309T>G | GRCh38 |
| NC_000016.9:g.85711915T>G , CM000678.1:g.85711915T>G | GRCh37 |
| NC_000016.8:g.84269416T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016095.3:c.461A>C MANE Select | NP_057179.1:p.Asn154Thr |
| ENST00000253462.8:c.461A>C MANE Select | ENSP00000253462.3:p.Asn154Thr |
| NM_016095.2:c.461A>C | NP_057179.1:p.Asn154Thr |
| ENST00000253462.7:c.461A>C | ENSP00000253462.3:p.Asn154Thr |