Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52314628C>T , CM000674.2:g.52314628C>T | GRCh38 |
| NC_000012.11:g.52708412C>T , CM000674.1:g.52708412C>T | GRCh37 |
| NC_000012.10:g.50994679C>T | NCBI36 |
| NG_008352.1:g.11771G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002282.3:c.*3G>A MANE Select | NP_002273.3:n.*3G>A |
| ENST00000293670.3:c.*3G>A MANE Select | ENSP00000293670.3:n.*3G>A |