Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431514G>C , CM000663.2:g.229431514G>C | GRCh38 |
| NC_000001.10:g.229567261G>C , CM000663.1:g.229567261G>C | GRCh37 |
| NC_000001.9:g.227633884G>C | NCBI36 |
| NG_006672.1:g.7583C>G , LRG_429:g.7583C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.1041C>G | ENSP00000355644.4:p.His347Gln | |
| ENST00000684723.1:c.984C>G | ENSP00000508084.1:p.His328Gln | |
| ENST00000366683.3:c.750C>G | ENSP00000355644.3:p.His250Gln | |
| ENST00000366684.7:c.1119C>G MANE Select | ENSP00000355645.3:p.His373Gln | |
| NM_001100.3:c.1119C>G , LRG_429t1:c.1119C>G | NP_001091.1:p.His373Gln | |
| NM_001100.4:c.1119C>G MANE Select | NP_001091.1:p.His373Gln |