Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119932186C>A , CM000685.2:g.119932186C>A | GRCh38 |
| NC_000023.10:g.119066149C>A , CM000685.1:g.119066149C>A | GRCh37 |
| NC_000023.9:g.118950177C>A | NCBI36 |
| NG_021260.1:g.16587G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024528.4:c.768G>T MANE Select | NP_078804.2:p.Lys256Asn |
| ENST00000371410.5:c.768G>T MANE Select | ENSP00000360464.3:p.Lys256Asn |
| NM_024528.3:c.768G>T | NP_078804.2:p.Lys256Asn |
| ENST00000371410.4:c.768G>T | ENSP00000360464.3:p.Lys256Asn |
| ENST00000477789.5:n.1696G>T | |
| ENST00000482407.1:n.567G>T | |
| ENST00000652253.1:c.764G>T | |
| XM_017029842.1:c.471G>T | XP_016885331.1:p.Lys157Asn |