Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588674C>G , CM000672.2:g.113588674C>G | GRCh38 |
| NC_000010.10:g.115348433C>G , CM000672.1:g.115348433C>G | GRCh37 |
| NC_000010.9:g.115338423C>G | NCBI36 |
| NG_008956.1:g.40656C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*305C>G MANE Select | ENSP00000277903.4:n.*305C>G | |
| ENST00000351270.3:c.*305C>G | ENSP00000277903.4:n.*305C>G | |
| ENST00000542051.5:c.*305C>G | ENSP00000443283.1:n.*305C>G | |
| NM_001177660.1:c.*305C>G | NP_001171131.1:n.*305C>G | |
| NM_004132.3:c.*305C>G | NP_004123.1:n.*305C>G | |
| NM_001177660.2:c.*305C>G | NP_001171131.1:n.*305C>G | |
| NM_004132.4:c.*305C>G | NP_004123.1:n.*305C>G | |
| NM_004132.5:c.*305C>G MANE Select | NP_004123.1:n.*305C>G | |
| NM_001177660.3:c.*305C>G | NP_001171131.1:n.*305C>G |