Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184502C= , CM000679.2:g.42184502C= | GRCh38 |
| NC_000017.10:g.40336520C= , CM000679.1:g.40336520C= | GRCh37 |
| NC_000017.9:g.37590046C= | NCBI36 |
| NG_011448.1:g.5951G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.48G= MANE Select | ENSP00000293330.1:p.Leu16= | |
| NM_001524.1:c.48G= MANE Select | NP_001515.1:p.Leu16= |