Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115700627A= , CM000663.2:g.115700627A= | GRCh38 |
| NC_000001.10:g.116243248A= , CM000663.1:g.116243248A= | GRCh37 |
| NC_000001.9:g.116044771A= | NCBI36 |
| NG_008802.1:g.73179T= , LRG_404:g.73179T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.*1186T= | ENSP00000518226.1:n.*1186T= | |
| ENST00000261448.6:c.*614T= MANE Select | ENSP00000261448.5:n.*614T= | |
| ENST00000261448.5:c.*614T= | ENSP00000261448.5:n.*614T= | |
| NM_001232.3:c.*614T= , LRG_404t1:c.*614T= | NP_001223.2:n.*614T= | |
| NM_001232.4:c.*614T= MANE Select | NP_001223.2:n.*614T= |