Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184503A>C , CM000679.2:g.42184503A>C | GRCh38 |
| NC_000017.10:g.40336521A>C , CM000679.1:g.40336521A>C | GRCh37 |
| NC_000017.9:g.37590047A>C | NCBI36 |
| NG_011448.1:g.5950T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001524.1:c.47T>G MANE Select | NP_001515.1:p.Leu16Arg |
| ENST00000293330.1:c.47T>G MANE Select | ENSP00000293330.1:p.Leu16Arg |