Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121839965G>A , CM000674.2:g.121839965G>A | GRCh38 |
| NC_000012.11:g.122277871G>A , CM000674.1:g.122277871G>A | GRCh37 |
| NC_000012.10:g.120762254G>A | NCBI36 |
| NG_016461.1:g.53647C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.1038C>T MANE Select | NP_002141.2:p.Leu346= |
| ENST00000289004.8:c.1038C>T MANE Select | ENSP00000289004.4:p.Leu346= |
| NM_001171993.1:c.921C>T | NP_001165464.1:p.Leu307= |
| NM_001171993.2:c.921C>T | NP_001165464.1:p.Leu307= |
| NM_002150.2:c.1038C>T | NP_002141.1:p.Leu346= |
| ENST00000543163.5:c.921C>T | ENSP00000441677.1:p.Leu307= |