Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290034C>G , CM000663.2:g.155290034C>G | GRCh38 |
| NC_000001.10:g.155259825C>G , CM000663.1:g.155259825C>G | GRCh37 |
| NC_000001.9:g.153526449C>G | NCBI36 |
| NG_011677.1:g.16401G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.*538G>C MANE Select | ENSP00000339933.4:n.*538G>C | |
| ENST00000392414.7:c.*538G>C | ENSP00000376214.3:n.*538G>C | |
| NM_000298.5:c.*538G>C | NP_000289.1:n.*538G>C | |
| NM_181871.3:c.*538G>C | NP_870986.1:n.*538G>C | |
| NM_000298.6:c.*538G>C MANE Select | NP_000289.1:n.*538G>C | |
| NM_181871.4:c.*538G>C | NP_870986.1:n.*538G>C |