Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431843C>G , CM000663.2:g.229431843C>G | GRCh38 |
| NC_000001.10:g.229567590C>G , CM000663.1:g.229567590C>G | GRCh37 |
| NC_000001.9:g.227634213C>G | NCBI36 |
| NG_006672.1:g.7254G>C , LRG_429:g.7254G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.868G>C MANE Select | NP_001091.1:p.Asp290His |
| ENST00000366684.7:c.868G>C MANE Select | ENSP00000355645.3:p.Asp290His |
| NM_001100.3:c.868G>C , LRG_429t1:c.868G>C | NP_001091.1:p.Asp290His |
| ENST00000366683.3:c.499G>C | ENSP00000355644.3:p.Asp167His |
| ENST00000366683.4:c.868G>C | ENSP00000355644.4:p.Asp290His |
| ENST00000684723.1:c.733G>C | ENSP00000508084.1:p.Asp245His |