Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27508073T>A , CM000664.2:g.27508073T>A | GRCh38 |
| NC_000002.11:g.27730940T>A , CM000664.1:g.27730940T>A | GRCh37 |
| NC_000002.10:g.27584444T>A | NCBI36 |
| NG_028024.1:g.16235T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001486.4:c.1337T>A MANE Select | NP_001477.2:p.Leu446Gln |
| ENST00000264717.7:c.1337T>A MANE Select | ENSP00000264717.2:p.Leu446Gln |
| NM_001486.3:c.1337T>A | NP_001477.2:p.Leu446Gln |
| ENST00000264717.6:c.1337T>A | ENSP00000264717.2:p.Leu446Gln |
| ENST00000411584.1:c.439T>A | |
| ENST00000478147.1:n.534T>A | |
| XM_011532761.1:c.1184T>A | XP_011531063.1:p.Leu395Gln |
| XM_011532762.1:c.767T>A | XP_011531064.1:p.Leu256Gln |
| XM_017003796.1:c.767T>A | XP_016859285.1:p.Leu256Gln |
| XM_017003797.1:c.767T>A | XP_016859286.1:p.Leu256Gln |