Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261778C>T , CM000676.2:g.24261778C>T | GRCh38 |
| NC_000014.8:g.24730984C>T , CM000676.1:g.24730984C>T | GRCh37 |
| NC_000014.7:g.23800824C>T | NCBI36 |
| NG_007150.1:g.6389G>A | |
| NG_007150.2:g.6389G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.425G>A MANE Select | NP_000350.1:p.Arg142His |
| ENST00000206765.11:c.425G>A MANE Select | ENSP00000206765.6:p.Arg142His |
| NM_000359.2:c.425G>A | NP_000350.1:p.Arg142His |
| ENST00000206765.10:c.425G>A | ENSP00000206765.6:p.Arg142His |
| ENST00000544573.5:c.-29+349G>A | ENSP00000439446.1:n.-29+349G>A |