Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184644T>C , CM000679.2:g.42184644T>C | GRCh38 |
| NC_000017.10:g.40336662T>C , CM000679.1:g.40336662T>C | GRCh37 |
| NC_000017.9:g.37590188T>C | NCBI36 |
| NG_011448.1:g.5809A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-116A>G MANE Select | ENSP00000293330.1:n.22-116A>G | |
| NM_001524.1:c.22-116A>G MANE Select | NP_001515.1:n.22-116A>G |