Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506816G>C , CM000672.2:g.122506816G>C | GRCh38 |
| NC_000010.10:g.124266332G>C , CM000672.1:g.124266332G>C | GRCh37 |
| NC_000010.9:g.124256322G>C | NCBI36 |
| NG_011554.1:g.50292G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.903G>C MANE Select | ENSP00000357980.3:p.Gln301His | |
| ENST00000648167.1:c.585G>C | ENSP00000498033.1:p.Gln195His | |
| ENST00000368984.7:c.903G>C | ENSP00000357980.3:p.Gln301His | |
| ENST00000420892.1:c.126G>C | ENSP00000412676.1:p.Gln42His | |
| NM_002775.4:c.903G>C | NP_002766.1:p.Gln301His | |
| NM_002775.5:c.903G>C MANE Select | NP_002766.1:p.Gln301His |