Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52489989C>T , CM000674.2:g.52489989C>T | GRCh38 |
| NC_000012.11:g.52883773C>T , CM000674.1:g.52883773C>T | GRCh37 |
| NC_000012.10:g.51170040C>T | NCBI36 |
| NG_008298.1:g.8409G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005554.4:c.1157G>A MANE Select | NP_005545.1:p.Arg386His |
| ENST00000330722.7:c.1157G>A MANE Select | ENSP00000369317.3:p.Arg386His |
| NM_005554.3:c.1157G>A | NP_005545.1:p.Arg386His |
| ENST00000330722.6:c.1157G>A | ENSP00000369317.3:p.Arg386His |
| ENST00000548735.1:n.134G>A | |
| ENST00000549898.5:n.802G>A |