Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184718C>T , CM000679.2:g.42184718C>T | GRCh38 |
| NC_000017.10:g.40336736C>T , CM000679.1:g.40336736C>T | GRCh37 |
| NC_000017.9:g.37590262C>T | NCBI36 |
| NG_011448.1:g.5735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-190G>A MANE Select | ENSP00000293330.1:n.22-190G>A | |
| NM_001524.1:c.22-190G>A MANE Select | NP_001515.1:n.22-190G>A |