Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22766599G>A , CM000676.2:g.22766599G>A | GRCh38 |
| NC_000014.8:g.23235808G>A , CM000676.1:g.23235808G>A | GRCh37 |
| NC_000014.7:g.22305648G>A | NCBI36 |
| NG_051068.1:g.5078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285848.9:c.78G>A | ENSP00000285848.5:p.Leu26= | |
| ENST00000612549.4:c.78G>A | ENSP00000483491.1:p.Leu26= | |
| NM_005015.3:c.78G>A | NP_005006.3:p.Leu26= |