Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172770578G>A , CM000667.2:g.172770578G>A | GRCh38 |
| NC_000005.9:g.172197581G>A , CM000667.1:g.172197581G>A | GRCh37 |
| NC_000005.8:g.172130187G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004417.4:c.367+8C>T MANE Select | NP_004408.1:n.367+8C>T |
| ENST00000239223.4:c.367+8C>T MANE Select | ENSP00000239223.3:n.367+8C>T |
| NM_004417.3:c.367+8C>T | NP_004408.1:n.367+8C>T |
| ENST00000239223.3:c.367+8C>T | ENSP00000239223.3:n.367+8C>T |