Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86152842C>A , CM000670.2:g.86152842C>A | GRCh38 |
| NC_000008.10:g.87165071C>A , CM000670.1:g.87165071C>A | GRCh37 |
| NC_000008.9:g.87234187C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285393.4:c.918C>A MANE Select | ENSP00000285393.3:p.Asn306Lys | |
| ENST00000285393.3:c.918C>A | ENSP00000285393.3:p.Asn306Lys | |
| NM_152565.1:c.918C>A MANE Select | NP_689778.1:p.Asn306Lys | |
| XM_011516955.1:c.648C>A | XP_011515257.1:p.Asn216Lys |