Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49893787C>T , CM000676.2:g.49893787C>T | GRCh38 |
| NC_000014.8:g.50360505C>T , CM000676.1:g.50360505C>T | GRCh37 |
| NC_000014.7:g.49430255C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001663.4:c.51C>T MANE Select | NP_001654.1:p.Leu17= |
| ENST00000298316.7:c.51C>T MANE Select | ENSP00000298316.5:p.Leu17= |
| NM_001663.3:c.51C>T | NP_001654.1:p.Leu17= |
| ENST00000298316.6:c.51C>T | ENSP00000298316.5:p.Leu17= |
| ENST00000692608.1:c.-15-322C>T | ENSP00000510807.1:n.-15-322C>T |
| ENST00000693319.1:c.51C>T | ENSP00000510419.1:p.Leu17= |