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