Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121435782C>G , CM000668.2:g.121435782C>G | GRCh38 |
| NC_000006.11:g.121756928C>G , CM000668.1:g.121756928C>G | GRCh37 |
| NC_000006.10:g.121798627C>G | NCBI36 |
| NG_008308.1:g.5184C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.-67C>G MANE Select | NP_000156.1:n.-67C>G |
| ENST00000282561.4:c.-67C>G MANE Select | ENSP00000282561.3:n.-67C>G |
| NM_000165.4:c.-67C>G | NP_000156.1:n.-67C>G |
| ENST00000282561.3:c.-67C>G | ENSP00000282561.3:n.-67C>G |
| ENST00000649003.1:c.-17+122C>G | ENSP00000497283.1:n.-17+122C>G |