Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67753920C>T , CM000666.2:g.67753920C>T | GRCh38 |
| NC_000004.11:g.68619638C>T , CM000666.1:g.68619638C>T | GRCh37 |
| NC_000004.10:g.68302233C>T | NCBI36 |
| NG_009293.1:g.7167G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000406.3:c.416G>A MANE Select | NP_000397.1:p.Arg139His |
| ENST00000226413.5:c.416G>A MANE Select | ENSP00000226413.5:p.Arg139His |
| NM_000406.2:c.416G>A | NP_000397.1:p.Arg139His |
| NM_001012763.1:c.416G>A | NP_001012781.1:p.Arg139His |
| NM_001012763.2:c.416G>A | NP_001012781.1:p.Arg139His |
| ENST00000226413.4:c.416G>A | ENSP00000226413.4:p.Arg139His |
| ENST00000420975.2:c.416G>A | ENSP00000397561.2:p.Arg139His |