Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305227G>C , CM000667.2:g.44305227G>C | GRCh38 |
| NC_000005.9:g.44305329G>C , CM000667.1:g.44305329G>C | GRCh37 |
| NC_000005.8:g.44341086G>C | NCBI36 |
| NG_011446.1:g.88456C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.430-35C>G MANE Select | ENSP00000264664.4:n.430-35C>G | |
| ENST00000264664.4:c.430-35C>G | ENSP00000264664.4:n.430-35C>G | |
| NM_004465.1:c.430-35C>G | NP_004456.1:n.430-35C>G | |
| XM_005248264.2:c.430-35C>G | XP_005248321.1:n.430-35C>G | |
| XM_005248264.4:c.430-35C>G | XP_005248321.1:n.430-35C>G | |
| NM_004465.2:c.430-35C>G MANE Select | NP_004456.1:n.430-35C>G |