Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768552T= , CM000663.2:g.115768552T= | GRCh38 |
| NC_000001.10:g.116311173T= , CM000663.1:g.116311173T= | GRCh37 |
| NC_000001.9:g.116112696T= | NCBI36 |
| NG_008802.1:g.5254A= , LRG_404:g.5254A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-223-64A= | ENSP00000518226.1:n.-223-64A= | |
| ENST00000261448.6:c.-11A= MANE Select | ENSP00000261448.5:n.-11A= | |
| ENST00000261448.5:c.-11A= | ENSP00000261448.5:n.-11A= | |
| NM_001232.3:c.-11A= , LRG_404t1:c.-11A= | NP_001223.2:n.-11A= | |
| NM_001232.4:c.-11A= MANE Select | NP_001223.2:n.-11A= |