Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912241T>A , CM000674.2:g.4912241T>A | GRCh38 |
| NC_000012.11:g.5021407T>A , CM000674.1:g.5021407T>A | GRCh37 |
| NC_000012.10:g.4891668T>A | NCBI36 |
| NG_011815.1:g.7335T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.863T>A MANE Select | NP_000208.2:p.Leu288Gln |
| ENST00000382545.5:c.863T>A MANE Select | ENSP00000371985.3:p.Leu288Gln |
| NM_000217.2:c.863T>A | NP_000208.2:p.Leu288Gln |
| ENST00000382545.3:c.863T>A | ENSP00000371985.3:p.Leu288Gln |
| ENST00000541095.1:n.105+1769T>A | |
| ENST00000543874.2:n.96+1769T>A | |
| ENST00000543874.3:n.105+1769T>A | |
| ENST00000639306.1:c.701T>A | ENSP00000492506.1:p.Leu234Gln |
| ENST00000639680.1:c.51T>A |