Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506867G>C , CM000672.2:g.122506867G>C | GRCh38 |
| NC_000010.10:g.124266383G>C , CM000672.1:g.124266383G>C | GRCh37 |
| NC_000010.9:g.124256373G>C | NCBI36 |
| NG_011554.1:g.50343G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.954G>C MANE Select | ENSP00000357980.3:p.Gln318His | |
| ENST00000648167.1:c.636G>C | ENSP00000498033.1:p.Gln212His | |
| ENST00000368984.7:c.954G>C | ENSP00000357980.3:p.Gln318His | |
| ENST00000420892.1:c.177G>C | ENSP00000412676.1:p.Gln59His | |
| NM_002775.4:c.954G>C | NP_002766.1:p.Gln318His | |
| NM_002775.5:c.954G>C MANE Select | NP_002766.1:p.Gln318His |