Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832060C>G , CM000663.2:g.92832060C>G | GRCh38 |
| NC_000001.10:g.93297617C>G , CM000663.1:g.93297617C>G | GRCh37 |
| NC_000001.9:g.93070205C>G | NCBI36 |
| NG_011779.1:g.5024C>G | |
| NG_033051.1:g.134463G>C | |
| NG_011779.2:g.5075C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.-55C>G MANE Select | ENSP00000359345.2:n.-55C>G | |
| ENST00000645119.1:c.-55C>G | ENSP00000493811.1:n.-55C>G | |
| ENST00000645300.1:c.-135C>G | ENSP00000495589.1:n.-135C>G | |
| ENST00000370321.7:c.-55C>G | ENSP00000359345.2:n.-55C>G | |
| NM_000969.3:c.-55C>G | NP_000960.2:n.-55C>G | |
| NM_000969.5:c.-55C>G MANE Select | NP_000960.2:n.-55C>G | |
| NR_146333.1:n.75C>G |