Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585157G>T , CM000673.2:g.67585157G>T | GRCh38 |
| NC_000011.9:g.67352628G>T , CM000673.1:g.67352628G>T | GRCh37 |
| NC_000011.8:g.67109204G>T | NCBI36 |
| NG_012075.1:g.6563G>T , LRG_723:g.6563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.252G>T | ENSP00000381604.1:p.Gln84His | |
| ENST00000398606.10:c.252G>T MANE Select | ENSP00000381607.3:p.Gln84His | |
| ENST00000646888.1:c.145G>T | ENSP00000494477.1:p.Ala49Ser | |
| ENST00000398603.5:c.252G>T | ENSP00000381604.1:p.Gln84His | |
| ENST00000398606.7:c.252G>T | ENSP00000381607.3:p.Gln84His | |
| ENST00000467591.1:n.363G>T | ||
| ENST00000494593.1:n.1047G>T | ||
| ENST00000498765.5:c.315G>T | ||
| NM_000852.3:c.252G>T , LRG_723t1:c.252G>T | NP_000843.1:p.Gln84His | |
| NM_000852.4:c.252G>T MANE Select | NP_000843.1:p.Gln84His |