Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261779G>A , CM000676.2:g.24261779G>A | GRCh38 |
| NC_000014.8:g.24730985G>A , CM000676.1:g.24730985G>A | GRCh37 |
| NC_000014.7:g.23800825G>A | NCBI36 |
| NG_007150.1:g.6388C>T | |
| NG_007150.2:g.6388C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.424C>T MANE Select | NP_000350.1:p.Arg142Cys |
| ENST00000206765.11:c.424C>T MANE Select | ENSP00000206765.6:p.Arg142Cys |
| NM_000359.2:c.424C>T | NP_000350.1:p.Arg142Cys |
| ENST00000206765.10:c.424C>T | ENSP00000206765.6:p.Arg142Cys |
| ENST00000544573.5:c.-29+348C>T | ENSP00000439446.1:n.-29+348C>T |