Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231516C>A , CM000672.2:g.68231516C>A | GRCh38 |
| NC_000010.10:g.69991273C>A , CM000672.1:g.69991273C>A | GRCh37 |
| NC_000010.9:g.69661279C>A | NCBI36 |
| NG_031934.1:g.5598G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.162G>T MANE Select | ENSP00000362777.3:p.Gln54His | |
| ENST00000373673.4:c.162G>T | ENSP00000362777.3:p.Gln54His | |
| NM_145178.3:c.162G>T | NP_660161.1:p.Gln54His | |
| NM_145178.4:c.162G>T MANE Select | NP_660161.1:p.Gln54His |