Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22148197A>T , CM000670.2:g.22148197A>T | GRCh38 |
| NC_000008.10:g.22005710A>T , CM000670.1:g.22005710A>T | GRCh37 |
| NC_000008.9:g.22061655A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139278.4:c.1610T>A MANE Select | NP_644807.1:p.Leu537Gln |
| ENST00000306317.7:c.1610T>A MANE Select | ENSP00000302297.2:p.Leu537Gln |
| NM_139278.2:c.1610T>A | NP_644807.1:p.Leu537Gln |
| NM_139278.3:c.1610T>A | NP_644807.1:p.Leu537Gln |
| ENST00000306317.6:c.1610T>A | ENSP00000302297.2:p.Leu537Gln |
| ENST00000424267.6:c.1538T>A | ENSP00000399121.2:p.Leu513Gln |
| ENST00000520124.5:n.3053T>A |