Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89710670C>A , CM000673.2:g.89710670C>A | GRCh38 |
| NC_000011.9:g.89443838C>A , CM000673.1:g.89443838C>A | GRCh37 |
| NC_000011.8:g.89083486C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398290.7:c.372C>A MANE Select | ENSP00000474003.1:p.His124Gln | |
| ENST00000534392.4:c.21C>A | ENSP00000474353.1:p.His7Gln | |
| NM_001146162.1:c.372C>A MANE Select | NP_001139634.1:p.His124Gln | |
| NM_001271942.1:c.372C>A | NP_001258871.1:p.His124Gln |