Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23386332G>A , CM000676.2:g.23386332G>A | GRCh38 |
| NC_000014.8:g.23855541G>A , CM000676.1:g.23855541G>A | GRCh37 |
| NC_000014.7:g.22925381G>A | NCBI36 |
| NG_023444.1:g.26946C>T , LRG_389:g.26946C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.4942C>T MANE Select | NP_002462.2:p.Leu1648Phe |
| ENST00000405093.9:c.4942C>T MANE Select | ENSP00000386041.3:p.Leu1648Phe |
| NM_002471.3:c.4942C>T , LRG_389t1:c.4942C>T | NP_002462.2:p.Leu1648Phe |
| ENST00000356287.3:c.4942C>T | ENSP00000348634.3:p.Leu1648Phe |
| ENST00000405093.7:c.4942C>T | ENSP00000386041.3:p.Leu1648Phe |