Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20654614C>A , CM000663.2:g.20654614C>A | GRCh38 |
| NC_000001.10:g.20981107C>A , CM000663.1:g.20981107C>A | GRCh37 |
| NC_000001.9:g.20853694C>A | NCBI36 |
| NG_032064.1:g.11931G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602624.7:c.645G>T MANE Select | ENSP00000473655.2:p.Gln215His | |
| ENST00000375048.7:c.696G>T | ENSP00000364188.3:p.Gln232His | |
| ENST00000415136.6:c.696G>T | ENSP00000399457.3:p.Gln232His | |
| ENST00000602624.6:c.645G>T | ENSP00000473655.1:p.Gln215His | |
| NM_005216.4:c.696G>T | NP_005207.2:p.Gln232His | |
| NM_005216.5:c.645G>T MANE Select | NP_005207.3:p.Gln215His |