Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571830T>C , CM000669.2:g.21571830T>C | GRCh38 |
| NC_000007.13:g.21611448T>C , CM000669.1:g.21611448T>C | GRCh37 |
| NC_000007.12:g.21577973T>C | NCBI36 |
| NG_012886.2:g.33616T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.1450T>C MANE Select | NP_001264044.1:p.Phe484Leu |
| ENST00000409508.8:c.1450T>C MANE Select | ENSP00000475939.1:p.Phe484Leu |
| NM_001277115.1:c.1450T>C | NP_001264044.1:p.Phe484Leu |
| ENST00000328843.10:c.1450T>C | ENSP00000330671.7:p.Phe484Leu |
| ENST00000409508.7:c.1450T>C | ENSP00000475939.1:p.Phe484Leu |
| ENST00000620169.4:c.1450T>C | ENSP00000481693.1:p.Phe484Leu |
| XR_001745114.1:n.2793+1496A>G | |
| XR_927090.1:n.563+1496A>G |