Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43687681T>A , CM000683.2:g.43687681T>A | GRCh38 |
| NC_000021.8:g.45107562T>A , CM000683.1:g.45107562T>A | GRCh37 |
| NC_000021.7:g.43931990T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015056.3:c.1307T>A MANE Select | NP_055871.1:p.Leu436Gln |
| ENST00000340648.6:c.1307T>A MANE Select | ENSP00000339145.4:p.Leu436Gln |
| NM_015056.2:c.1307T>A | NP_055871.1:p.Leu436Gln |
| ENST00000340648.5:c.1307T>A | ENSP00000339145.4:p.Leu436Gln |
| ENST00000470886.1:n.970T>A |