Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20118372C>A , CM000676.2:g.20118372C>A | GRCh38 |
| NC_000014.8:g.20586531C>A , CM000676.1:g.20586531C>A | GRCh37 |
| NC_000014.7:g.19656371C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004715.5:c.873C>A MANE Select | NP_001004715.3:p.Asn291Lys |
| ENST00000641386.2:c.873C>A MANE Select | ENSP00000493449.2:p.Asn291Lys |
| NM_001004715.1:c.966C>A | NP_001004715.1:p.Asn322Lys |
| NM_001004715.2:c.882C>A | NP_001004715.2:p.Asn294Lys |
| ENST00000315543.4:c.966C>A | ENSP00000319197.4:p.Asn322Lys |
| ENST00000641633.2:c.873C>A | ENSP00000493115.2:p.Asn291Lys |