Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673483G>T , CM000682.2:g.10673483G>T | GRCh38 |
| NC_000020.10:g.10654131G>T , CM000682.1:g.10654131G>T | GRCh37 |
| NC_000020.9:g.10602131G>T | NCBI36 |
| NG_007496.1:g.5564C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.48C>A MANE Select | NP_000205.1:p.Leu16= |
| ENST00000254958.10:c.48C>A MANE Select | ENSP00000254958.4:p.Leu16= |
| NM_000214.2:c.48C>A | NP_000205.1:p.Leu16= |
| ENST00000254958.9:c.48C>A | ENSP00000254958.4:p.Leu16= |