Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126909G>A , CM000681.2:g.9126909G>A | GRCh38 |
| NC_000019.9:g.9237585G>A , CM000681.1:g.9237585G>A | GRCh37 |
| NC_000019.8:g.9098585G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.42C>T MANE Select | ENSP00000302867.2:p.Leu14= | |
| NM_001001958.1:c.42C>T MANE Select | NP_001001958.1:p.Leu14= |