Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1075807T>A , CM000673.2:g.1075807T>A | GRCh38 |
| NC_000011.9:g.1075807T>A , CM000673.1:g.1075807T>A | GRCh37 |
| NC_000011.8:g.1065807T>A | NCBI36 |
| NG_051929.1:g.5933T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.260T>A | ||
| ENST00000675028.1:c.233T>A | ENSP00000502432.1:p.Leu78Gln | |
| NM_002457.3:c.233T>A | NP_002448.3:p.Leu78Gln | |
| NM_002457.4:c.233T>A | NP_002448.4:p.Leu78Gln |