Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076211C>T , CM000679.2:g.8076211C>T | GRCh38 |
| NC_000017.10:g.7979529C>T , CM000679.1:g.7979529C>T | GRCh37 |
| NC_000017.9:g.7920254C>T | NCBI36 |
| NG_007099.1:g.16493G>A | |
| NG_007099.2:g.16506G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1496G>A MANE Select | NP_001130.1:p.Arg499His |
| ENST00000647874.1:c.1496G>A MANE Select | ENSP00000497784.1:p.Arg499His |
| NM_001139.2:c.1496G>A | NP_001130.1:p.Arg499His |
| ENST00000319144.4:c.1496G>A | ENSP00000315167.4:p.Arg499His |
| ENST00000577351.5:n.443G>A | |
| ENST00000649809.1:c.560G>A | ENSP00000496845.1:p.Arg187His |