Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94442621G>T , CM000676.2:g.94442621G>T | GRCh38 |
| NC_000014.8:g.94908958G>T , CM000676.1:g.94908958G>T | GRCh37 |
| NC_000014.7:g.93978711G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080451.2:c.1254C>A MANE Select | NP_001073920.1:p.Asn418Lys |
| ENST00000334708.4:c.1254C>A MANE Select | ENSP00000335024.3:p.Asn418Lys |
| NM_001080451.1:c.1254C>A | NP_001073920.1:p.Asn418Lys |
| ENST00000334708.3:c.1254C>A | ENSP00000335024.3:p.Asn418Lys |
| XM_006720105.2:c.642C>A | XP_006720168.1:p.Asn214Lys |
| XM_006720105.3:c.642C>A | XP_006720168.1:p.Asn214Lys |