Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120446333C>T , CM000674.2:g.120446333C>T | GRCh38 |
| NC_000012.11:g.120884136C>T , CM000674.1:g.120884136C>T | GRCh37 |
| NC_000012.10:g.119368519C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016399.3:c.40G>A MANE Select | NP_057483.1:p.Glu14Lys |
| ENST00000546954.2:c.40G>A MANE Select | ENSP00000449795.1:p.Glu14Lys |
| NM_016399.2:c.40G>A | NP_057483.1:p.Glu14Lys |
| ENST00000302432.3:n.38G>A | |
| ENST00000546954.1:c.40G>A | ENSP00000449795.1:p.Glu14Lys |
| ENST00000551806.1:c.176-324C>T |