Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88639957G>A , CM000678.2:g.88639957G>A | GRCh38 |
| NC_000016.9:g.88706365G>A , CM000678.1:g.88706365G>A | GRCh37 |
| NC_000016.8:g.87233866G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244241.5:c.479G>A MANE Select | ENSP00000244241.4:p.Arg160His | |
| ENST00000244241.4:c.479G>A | ENSP00000244241.4:p.Arg160His | |
| ENST00000569133.1:n.863G>A | ||
| NM_013278.3:c.479G>A | NP_037410.1:p.Arg160His | |
| NM_013278.4:c.479G>A MANE Select | NP_037410.1:p.Arg160His |