Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121843822A>T , CM000674.2:g.121843822A>T | GRCh38 |
| NC_000012.11:g.122281728A>T , CM000674.1:g.122281728A>T | GRCh37 |
| NC_000012.10:g.120766111A>T | NCBI36 |
| NG_016461.1:g.49790T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.842T>A MANE Select | NP_002141.2:p.Leu281Ter |
| ENST00000289004.8:c.842T>A MANE Select | ENSP00000289004.4:p.Leu281Ter |
| NM_001171993.1:c.725T>A | NP_001165464.1:p.Leu242Ter |
| NM_001171993.2:c.725T>A | NP_001165464.1:p.Leu242Ter |
| NM_002150.2:c.842T>A | NP_002141.1:p.Leu281Ter |
| ENST00000543163.5:c.725T>A | ENSP00000441677.1:p.Leu242Ter |