Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43067944C>A , CM000677.2:g.43067944C>A | GRCh38 |
| NC_000015.9:g.43360142C>A , CM000677.1:g.43360142C>A | GRCh37 |
| NC_000015.8:g.41147434C>A | NCBI36 |
| NG_012182.1:g.43145G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.752G>T MANE Select | NP_777576.1:p.Cys251Phe |
| ENST00000290650.9:c.752G>T MANE Select | ENSP00000290650.4:p.Cys251Phe |
| NM_174916.2:c.752G>T | NP_777576.1:p.Cys251Phe |
| ENST00000290650.8:c.752G>T | ENSP00000290650.4:p.Cys251Phe |
| ENST00000546274.6:c.752G>T | ENSP00000477932.1:p.Cys251Phe |
| ENST00000563239.1:c.*202+2955G>T | ENSP00000456502.1:n.*202+2955G>T |