Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68684965C>T , CM000673.2:g.68684965C>T | GRCh38 |
| NC_000011.9:g.68452433C>T , CM000673.1:g.68452433C>T | GRCh37 |
| NC_000011.8:g.68209009C>T | NCBI36 |
| NG_052785.1:g.5491C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015973.5:c.42C>T MANE Select | NP_057057.2:p.Leu14= |
| ENST00000265643.4:c.42C>T MANE Select | ENSP00000265643.3:p.Leu14= |
| NM_015973.3:c.42C>T | NP_057057.2:p.Leu14= |
| NM_015973.4:c.42C>T | NP_057057.2:p.Leu14= |
| ENST00000265643.3:c.42C>T | ENSP00000265643.3:p.Leu14= |
| XR_001748281.1:n.230+2876G>A |