Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.56105706C>A , CM000673.2:g.56105706C>A | GRCh38 |
| NC_000011.9:g.55873182C>A , CM000673.1:g.55873182C>A | GRCh37 |
| NC_000011.8:g.55629758C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001386064.1:c.664C>A MANE Select | NP_001372993.1:p.Leu222Ile |
| ENST00000313503.2:c.664C>A MANE Select | ENSP00000323982.1:p.Leu222Ile |
| NM_001005200.1:c.664C>A | NP_001005200.1:p.Leu222Ile |
| NM_001005200.2:c.664C>A | NP_001005200.1:p.Leu222Ile |
| ENST00000313503.1:c.664C>A | ENSP00000323982.1:p.Leu222Ile |
| ENST00000618136.1:c.661C>A | ENSP00000482661.1:p.Leu221Ile |
| ENST00000641311.1:c.664C>A | ENSP00000493031.1:p.Leu222Ile |