Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94593680C>T , CM000671.2:g.94593680C>T | GRCh38 |
| NC_000009.11:g.97355962C>T , CM000671.1:g.97355962C>T | GRCh37 |
| NC_000009.10:g.96395783C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003837.4:c.47G>A MANE Select | NP_003828.2:p.Arg16His |
| ENST00000375337.4:c.47G>A MANE Select | ENSP00000364486.3:p.Arg16His |
| NM_003837.3:c.47G>A | NP_003828.2:p.Arg16His |
| ENST00000375337.3:c.47G>A | ENSP00000364486.3:p.Arg16His |