Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62243355T>A , CM000673.2:g.62243355T>A | GRCh38 |
| NC_000011.9:g.62010827T>A , CM000673.1:g.62010827T>A | GRCh37 |
| NC_000011.8:g.61767403T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006551.4:c.122T>A MANE Select | NP_006542.1:p.Leu41Gln |
| ENST00000244926.4:c.122T>A MANE Select | ENSP00000244926.3:p.Leu41Gln |
| NM_006551.3:c.122T>A | NP_006542.1:p.Leu41Gln |
| ENST00000244926.3:c.122T>A | ENSP00000244926.3:p.Leu41Gln |
| XM_006718422.2:c.122T>A | XP_006718485.1:p.Leu41Gln |