Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152600988G>A , CM000663.2:g.152600988G>A | GRCh38 |
| NC_000001.10:g.152573464G>A , CM000663.1:g.152573464G>A | GRCh37 |
| NC_000001.9:g.150840088G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178434.3:c.257G>A MANE Select | NP_848521.1:p.Arg86His |
| ENST00000684028.1:c.257G>A MANE Select | ENSP00000507204.1:p.Arg86His |
| NM_178434.2:c.257G>A | NP_848521.1:p.Arg86His |
| ENST00000333881.3:c.257G>A | ENSP00000334644.3:p.Arg86His |
| ENST00000617545.1:c.242G>A | ENSP00000482477.1:p.Arg81His |