Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189001557C>A , CM000664.2:g.189001557C>A | GRCh38 |
| NC_000002.11:g.189866283C>A , CM000664.1:g.189866283C>A | GRCh37 |
| NC_000002.10:g.189574528C>A | NCBI36 |
| NG_007404.1:g.32185C>A , LRG_3:g.32185C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.2359C>A MANE Select | NP_000081.2:p.Leu787Ile |
| ENST00000304636.9:c.2359C>A MANE Select | ENSP00000304408.4:p.Leu787Ile |
| NM_000090.3:c.2359C>A , LRG_3t1:c.2359C>A | NP_000081.1:p.Leu787Ile |
| ENST00000304636.7:c.2359C>A | ENSP00000304408.3:p.Leu787Ile |
| ENST00000317840.9:c.2359C>A | ENSP00000315243.6:p.Leu787Ile |
| ENST00000450867.2:c.2260C>A | ENSP00000415346.2:p.Leu754Ile |