Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22181546A>C , CM000680.2:g.22181546A>C | GRCh38 |
| NC_000018.9:g.19761507A>C , CM000680.1:g.19761507A>C | GRCh37 |
| NC_000018.8:g.18015505A>C | NCBI36 |
| NG_032677.1:g.17104A>C | |
| NG_032677.2:g.17110A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005257.6:c.1396A>C MANE Select | NP_005248.2:p.Asn466His |
| ENST00000269216.10:c.1396A>C MANE Select | ENSP00000269216.3:p.Asn466His |
| NM_005257.5:c.1396A>C | NP_005248.2:p.Asn466His |
| ENST00000269216.7:c.1396A>C | ENSP00000269216.3:p.Asn466His |
| ENST00000581694.1:c.1396A>C | ENSP00000462313.1:p.Asn466His |