Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043367G>A , CM000663.2:g.94043367G>A | GRCh38 |
| NC_000001.10:g.94508923G>A , CM000663.1:g.94508923G>A | GRCh37 |
| NC_000001.9:g.94281511G>A | NCBI36 |
| NG_009073.1:g.82783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3159C>T MANE Select | ENSP00000359245.3:p.His1053= | |
| ENST00000370225.3:c.3159C>T | ENSP00000359245.3:p.His1053= | |
| ENST00000536513.5:c.-64-3278C>T | ENSP00000439707.2:n.-64-3278C>T | |
| NM_000350.2:c.3159C>T | NP_000341.2:p.His1053= | |
| NM_000350.3:c.3159C>T MANE Select | NP_000341.2:p.His1053= |