Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184503A>T , CM000679.2:g.42184503A>T | GRCh38 |
| NC_000017.10:g.40336521A>T , CM000679.1:g.40336521A>T | GRCh37 |
| NC_000017.9:g.37590047A>T | NCBI36 |
| NG_011448.1:g.5950T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001524.1:c.47T>A MANE Select | NP_001515.1:p.Leu16Gln |
| ENST00000293330.1:c.47T>A MANE Select | ENSP00000293330.1:p.Leu16Gln |